Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47407491_47407492insTGG , CM000664.2:g.47407491_47407492insTGG	GRCh38
NC_000002.11:g.47634630_47634631insTGG , CM000664.1:g.47634630_47634631insTGG	GRCh37
NC_000002.10:g.47488134_47488135insTGG	NCBI36
NG_007110.2:g.9368_9369insTGG , LRG_218:g.9368_9369insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.212-910_212-909insTGG	ENSP00000495641.2:n.212-910_212-909insTGG
ENST00000233146.7:c.212-910_212-909insTGG MANE Select	ENSP00000233146.2:n.212-910_212-909insTGG
ENST00000543555.6:c.14-910_14-909insTGG	ENSP00000442697.1:n.14-910_14-909insTGG
ENST00000644092.1:c.212-910_212-909insTGG	ENSP00000496351.1:n.212-910_212-909insTGG
ENST00000645339.1:c.212-910_212-909insTGG	ENSP00000496441.1:n.212-910_212-909insTGG
ENST00000645506.1:c.212-910_212-909insTGG	ENSP00000495455.1:n.212-910_212-909insTGG
ENST00000646415.1:c.212-910_212-909insTGG	ENSP00000495543.1:n.212-910_212-909insTGG
ENST00000233146.6:c.212-910_212-909insTGG	ENSP00000233146.2:n.212-910_212-909insTGG
ENST00000406134.5:c.212-910_212-909insTGG	ENSP00000384199.1:n.212-910_212-909insTGG
ENST00000454849.5:c.14-910_14-909insTGG	ENSP00000411482.1:n.14-910_14-909insTGG
ENST00000543555.5:c.14-910_14-909insTGG	ENSP00000442697.1:n.14-910_14-909insTGG
ENST00000610696.4:c.212-910_212-909insTGG	ENSP00000483159.1:n.212-910_212-909insTGG
ENST00000613514.4:c.212-910_212-909insTGG	ENSP00000484137.1:n.212-910_212-909insTGG
ENST00000617333.3:c.212-910_212-909insTGG	ENSP00000482468.1:n.212-910_212-909insTGG
ENST00000617938.4:c.212-910_212-909insTGG	ENSP00000481158.1:n.212-910_212-909insTGG
ENST00000621359.2:c.212-910_212-909insTGG	ENSP00000481416.1:n.212-910_212-909insTGG
NM_000251.2:c.212-910_212-909insTGG , LRG_218t1:c.212-910_212-909insTGG	NP_000242.1:n.212-910_212-909insTGG
NM_001258281.1:c.14-910_14-909insTGG	NP_001245210.1:n.14-910_14-909insTGG
XM_005264332.2:c.212-910_212-909insTGG	XP_005264389.2:n.212-910_212-909insTGG
XM_011532867.1:c.212-910_212-909insTGG	XP_011531169.1:n.212-910_212-909insTGG
XR_939685.1:n.284-910_284-909insTGG
XM_005264332.4:c.212-910_212-909insTGG	XP_005264389.2:n.212-910_212-909insTGG
XM_011532867.2:c.212-910_212-909insTGG	XP_011531169.1:n.212-910_212-909insTGG
XR_001738747.2:n.274-910_274-909insTGG
XR_939685.2:n.274-910_274-909insTGG
NM_000251.3:c.212-910_212-909insTGG MANE Select	NP_000242.1:n.212-910_212-909insTGG