Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412503_47412504insTGTT , CM000664.2:g.47412503_47412504insTGTT	GRCh38
NC_000002.11:g.47639642_47639643insTGTT , CM000664.1:g.47639642_47639643insTGTT	GRCh37
NC_000002.10:g.47493146_47493147insTGTT	NCBI36
NG_007110.2:g.14380_14381insTGTT , LRG_218:g.14380_14381insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.735_736insTGTT	ENSP00000495641.2:p.Lys246CysfsTer2
ENST00000233146.7:c.735_736insTGTT MANE Select	ENSP00000233146.2:p.Lys246CysfsTer2
ENST00000543555.6:c.537_538insTGTT	ENSP00000442697.1:p.Lys180CysfsTer2
ENST00000644092.1:c.735_736insTGTT	ENSP00000496351.1:p.Lys246CysfsTer2
ENST00000645339.1:c.735_736insTGTT	ENSP00000496441.1:p.Lys246CysfsTer2
ENST00000645506.1:c.735_736insTGTT	ENSP00000495455.1:p.Lys246CysfsTer2
ENST00000646415.1:c.735_736insTGTT	ENSP00000495543.1:p.Lys246CysfsTer2
ENST00000233146.6:c.735_736insTGTT	ENSP00000233146.2:p.Lys246CysfsTer2
ENST00000406134.5:c.735_736insTGTT	ENSP00000384199.1:p.Lys246CysfsTer2
ENST00000543555.5:c.537_538insTGTT	ENSP00000442697.1:p.Lys180CysfsTer2
ENST00000610696.4:c.735_736insTGTT	ENSP00000483159.1:p.Lys246CysfsTer2
ENST00000613514.4:c.735_736insTGTT	ENSP00000484137.1:p.Lys246CysfsTer2
ENST00000617333.3:c.735_736insTGTT	ENSP00000482468.1:p.Lys246CysfsTer2
ENST00000617938.4:c.735_736insTGTT	ENSP00000481158.1:p.Lys246CysfsTer2
ENST00000621359.2:c.735_736insTGTT	ENSP00000481416.1:p.Lys246CysfsTer2
NM_000251.2:c.735_736insTGTT , LRG_218t1:c.735_736insTGTT	NP_000242.1:p.Lys246CysfsTer2
NM_001258281.1:c.537_538insTGTT	NP_001245210.1:p.Lys180CysfsTer2
XM_005264332.2:c.735_736insTGTT	XP_005264389.2:p.Lys246CysfsTer2
XM_011532867.1:c.735_736insTGTT	XP_011531169.1:p.Lys246CysfsTer2
XR_939685.1:n.807_808insTGTT
XM_005264332.4:c.735_736insTGTT	XP_005264389.2:p.Lys246CysfsTer2
XM_011532867.2:c.735_736insTGTT	XP_011531169.1:p.Lys246CysfsTer2
XR_001738747.2:n.797_798insTGTT
XR_939685.2:n.797_798insTGTT
NM_000251.3:c.735_736insTGTT MANE Select	NP_000242.1:p.Lys246CysfsTer2