Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475251_47475252delinsAG , CM000664.2:g.47475251_47475252delinsAG	GRCh38
NC_000002.11:g.47702390_47702391delinsAG , CM000664.1:g.47702390_47702391delinsAG	GRCh37
NC_000002.10:g.47555894_47555895delinsAG	NCBI36
NG_007110.2:g.77128_77129delinsAG , LRG_218:g.77128_77129delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1986_1987delinsAG	ENSP00000495641.2:p.Met663Val
ENST00000233146.7:c.1986_1987delinsAG MANE Select	ENSP00000233146.2:p.Met663Val
ENST00000543555.6:c.1788_1789delinsAG	ENSP00000442697.1:p.Met597Val
ENST00000644092.1:c.286_287delinsAG	ENSP00000496351.1:n.286_287delinsAG
ENST00000645339.1:c.1986_1987delinsAG	ENSP00000496441.1:p.Met663Val
ENST00000645506.1:c.1986_1987delinsAG	ENSP00000495455.1:p.Met663Val
ENST00000646415.1:c.1986_1987delinsAG	ENSP00000495543.1:p.Met663Val
ENST00000233146.6:c.1986_1987delinsAG	ENSP00000233146.2:p.Met663Val
ENST00000406134.5:c.1986_1987delinsAG	ENSP00000384199.1:p.Met663Val
ENST00000543555.5:c.1788_1789delinsAG	ENSP00000442697.1:p.Met597Val
ENST00000610696.4:c.382_383delinsAG	ENSP00000483159.1:n.382_383delinsAG
ENST00000613514.4:c.526_527delinsAG	ENSP00000484137.1:n.526_527delinsAG
ENST00000617333.3:c.752_753delinsAG	ENSP00000482468.1:n.752_753delinsAG
ENST00000617938.4:c.958_959delinsAG	ENSP00000481158.1:n.958_959delinsAG
ENST00000621359.2:c.1986_1987delinsAG	ENSP00000481416.1:p.Met663Val
NM_000251.2:c.1986_1987delinsAG , LRG_218t1:c.1986_1987delinsAG	NP_000242.1:p.Met663Val
NM_001258281.1:c.1788_1789delinsAG	NP_001245210.1:p.Met597Val
XM_005264332.2:c.1986_1987delinsAG	XP_005264389.2:p.Met663Val
XM_011532867.1:c.1986_1987delinsAG	XP_011531169.1:p.Met663Val
XR_939685.1:n.2058_2059delinsAG
XM_005264332.4:c.1986_1987delinsAG	XP_005264389.2:p.Met663Val
XM_011532867.2:c.1986_1987delinsAG	XP_011531169.1:p.Met663Val
XR_001738747.2:n.2048_2049delinsAG
XR_939685.2:n.2048_2049delinsAG
NM_000251.3:c.1986_1987delinsAG MANE Select	NP_000242.1:p.Met663Val