Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCTTGTCTGGGGTGGGGGCTCTATC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCTTGTCTGGGGTGGGGGCTCTATC	GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCTTGTCTGGGGTGGGGGCTCTATC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCTTGTCTGGGGTGGGGGCTCTATC	GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCTTGTCTGGGGTGGGGGCTCTATC	NCBI36
NG_009004.1:g.32013_32014insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
NG_009004.2:g.32013_32014insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000516702.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000344425.8:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000345523.5:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000359125.7:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG MANE Select	ENSP00000352035.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000636255.1:n.126-264_126-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
ENST00000636846.1:n.96-264_96-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
ENST00000637193.1:c.-132-264_-132-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000490734.1:n.-132-264_-132-263insCCCCCACCCCAGACAAGGCCA...
ENST00000637704.1:n.23-264_23-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
ENST00000344425.7:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000345523.5:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000344462.8:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000339611.4:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000357249.6:c.46-264_46-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000349789.3:n.46-264_46-263insCCCCCACCCCAGACAAGGCCACCCC...
ENST00000359125.6:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000352035.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000360480.7:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000353668.3:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000370221.3:n.514-264_514-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
ENST00000370224.5:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000359244.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000625514.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000486040.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000626313.1:n.230-264_230-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG
ENST00000626839.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000486706.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000629241.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000487142.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
ENST00000629676.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	ENSP00000486194.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACC...
NM_004518.4:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_004509.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172106.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742104.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172107.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742105.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172108.3:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742106.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172109.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742107.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
XM_006723787.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_006723850.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528807.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527109.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528808.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527110.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528809.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527111.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528810.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527112.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528811.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527113.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528812.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527114.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528813.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527115.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528814.1:c.-132-264_-132-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527116.1:n.-132-264_-132-263insCCCCCACCCCAGACAAGGCCACCC...
XM_011528815.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527117.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528816.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527118.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
NM_004518.5:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_004509.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172106.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742104.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172107.3:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742105.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172108.4:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742106.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172109.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742107.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
XM_011528810.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527112.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_011528811.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_011527113.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_017027841.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_016883330.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_017027842.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_016883331.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_017027843.1:c.319-264_319-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_016883332.1:n.319-264_319-263insCCCCCACCCCAGACAAGGCCACCCCC...
XM_017027844.2:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	XP_016883333.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...
NM_004518.6:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_004509.2:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172106.3:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742104.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172107.4:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG MANE Select	NP_742105.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172108.5:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742106.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_172109.3:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_742107.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCAC...
NM_001382235.1:c.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGAG	NP_001369164.1:n.388-264_388-263insCCCCCACCCCAGACAAGGCCACCCCC...