Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406498_63406519delinsTCAGCCCACATGGGCCCCTCCA , CM000682.2:g.63406498_63406519delinsTCAGCCCACATGGGCCCCTCCA	GRCh38
NC_000020.10:g.62037851_62037872delinsTCAGCCCACATGGGCCCCTCCA , CM000682.1:g.62037851_62037872delinsTCAGCCCACATGGGCCCCTCCA	GRCh37
NC_000020.9:g.61508295_61508316delinsTCAGCCCACATGGGCCCCTCCA	NCBI36
NG_009004.1:g.71122_71143delinsTGGAGGGGCCCATGTGGGCTGA
NG_009004.2:g.71122_71143delinsTGGAGGGGCCCATGTGGGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000516702.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000359125.7:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA MANE Select	ENSP00000352035.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000637193.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000490734.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000344462.8:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000339611.4:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000357249.6:c.2312_2333delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000349789.3:n.2312_2333delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000359125.6:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000352035.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000360480.7:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000353668.3:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000370224.5:c.2241+527_2241+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000359244.2:n.2241+527_2241+548delinsTGGAGGGGCCCATGTGGG...
ENST00000625514.2:c.2205+527_2205+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486040.1:n.2205+527_2205+548delinsTGGAGGGGCCCATGTGGG...
ENST00000626839.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486706.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000629241.2:c.2133+527_2133+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000487142.1:n.2133+527_2133+548delinsTGGAGGGGCCCATGTGGG...
ENST00000629676.2:c.1680-5676_1680-5655delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486194.1:n.1680-5676_1680-5655delinsTGGAGGGGCCCATGTG...
NM_004518.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_006723787.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_006723850.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528807.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527109.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528808.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527110.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528809.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527111.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528810.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527112.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528811.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527113.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528812.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527114.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528813.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527115.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528814.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527116.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_004518.5:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528810.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527112.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528811.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527113.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027841.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883330.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027842.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883331.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027843.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883332.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027844.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883333.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027845.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883334.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_004518.6:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA MANE Select	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.5:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_001382235.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_001369164.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA

HGVS	Amino-acid Change
ENST00000706989.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000516702.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000359125.7:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA MANE Select	ENSP00000352035.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000637193.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000490734.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000344462.8:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000339611.4:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000357249.6:c.2312_2333delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000349789.3:n.2312_2333delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000359125.6:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000352035.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000360480.7:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000353668.3:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000370224.5:c.2241+527_2241+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000359244.2:n.2241+527_2241+548delinsTGGAGGGGCCCATGTGGG...
ENST00000625514.2:c.2205+527_2205+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486040.1:n.2205+527_2205+548delinsTGGAGGGGCCCATGTGGG...
ENST00000626839.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486706.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
ENST00000629241.2:c.2133+527_2133+548delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000487142.1:n.2133+527_2133+548delinsTGGAGGGGCCCATGTGGG...
ENST00000629676.2:c.1680-5676_1680-5655delinsTGGAGGGGCCCATGTGGGCTGA	ENSP00000486194.1:n.1680-5676_1680-5655delinsTGGAGGGGCCCATGTG...
NM_004518.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_006723787.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_006723850.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528807.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527109.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528808.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527110.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528809.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527111.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528810.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527112.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528811.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527113.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528812.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527114.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528813.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527115.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528814.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527116.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_004518.5:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528810.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527112.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_011528811.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_011527113.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027841.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883330.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027842.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883331.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027843.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883332.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027844.2:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883333.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
XM_017027845.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	XP_016883334.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_004518.6:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_004509.2:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172106.3:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742104.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172107.4:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA MANE Select	NP_742105.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_172108.5:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_742106.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA
NM_001382235.1:c.125_146delinsTGGAGGGGCCCATGTGGGCTGA	NP_001369164.1:n.125_146delinsTGGAGGGGCCCATGTGGGCTGA