Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480705_47480706insC , CM000664.2:g.47480705_47480706insC	GRCh38
NC_000002.11:g.47707844_47707845insC , CM000664.1:g.47707844_47707845insC	GRCh37
NC_000002.10:g.47561348_47561349insC	NCBI36
NG_007110.2:g.82582_82583insC , LRG_218:g.82582_82583insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2468_2469insC	ENSP00000495641.2:p.Gln824SerfsTer12
ENST00000233146.7:c.2468_2469insC MANE Select	ENSP00000233146.2:p.Gln824SerfsTer12
ENST00000543555.6:c.2270_2271insC	ENSP00000442697.1:p.Gln758SerfsTer12
ENST00000644092.1:c.768_769insC	ENSP00000496351.1:n.768_769insC
ENST00000644900.1:c.321_322insC
ENST00000645339.1:c.2468_2469insC	ENSP00000496441.1:p.Gln824SerfsTer12
ENST00000645506.1:c.2468_2469insC	ENSP00000495455.1:p.Gln824SerfsTer12
ENST00000646415.1:c.2468_2469insC	ENSP00000495543.1:p.Gln824SerfsTer12
ENST00000233146.6:c.2468_2469insC	ENSP00000233146.2:p.Gln824SerfsTer12
ENST00000406134.5:c.2468_2469insC	ENSP00000384199.1:p.Gln824SerfsTer12
ENST00000543555.5:c.2270_2271insC	ENSP00000442697.1:p.Gln758SerfsTer12
ENST00000610696.4:c.864_865insC	ENSP00000483159.1:n.864_865insC
ENST00000613514.4:c.1008_1009insC	ENSP00000484137.1:n.1008_1009insC
ENST00000617333.3:c.1234_1235insC	ENSP00000482468.1:n.1234_1235insC
ENST00000617938.4:c.1440_1441insC	ENSP00000481158.1:n.1440_1441insC
ENST00000621359.2:c.34_35insC	ENSP00000481416.1:n.34_35insC
NM_000251.2:c.2468_2469insC , LRG_218t1:c.2468_2469insC	NP_000242.1:p.Gln824SerfsTer12
NM_001258281.1:c.2270_2271insC	NP_001245210.1:p.Gln758SerfsTer12
XM_005264332.2:c.2468_2469insC	XP_005264389.2:p.Gln824SerfsTer12
XM_011532867.1:c.2468_2469insC	XP_011531169.1:p.Gln824SerfsTer12
XR_939685.1:n.2540_2541insC
XM_005264332.4:c.2468_2469insC	XP_005264389.2:p.Gln824SerfsTer12
XM_011532867.2:c.2468_2469insC	XP_011531169.1:p.Gln824SerfsTer12
XR_001738747.2:n.2530_2531insC
XR_939685.2:n.2530_2531insC
NM_000251.3:c.2468_2469insC MANE Select	NP_000242.1:p.Gln824SerfsTer12