Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475160_47475162delinsTTA , CM000664.2:g.47475160_47475162delinsTTA	GRCh38
NC_000002.11:g.47702299_47702301delinsTTA , CM000664.1:g.47702299_47702301delinsTTA	GRCh37
NC_000002.10:g.47555803_47555805delinsTTA	NCBI36
NG_007110.2:g.77037_77039delinsTTA , LRG_218:g.77037_77039delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1895_1897delinsTTA	ENSP00000495641.2:p.Ile632=
ENST00000233146.7:c.1895_1897delinsTTA MANE Select	ENSP00000233146.2:p.Ile632=
ENST00000543555.6:c.1697_1699delinsTTA	ENSP00000442697.1:p.Ile566=
ENST00000644092.1:c.195_197delinsTTA	ENSP00000496351.1:n.195_197delinsTTA
ENST00000645339.1:c.1895_1897delinsTTA	ENSP00000496441.1:p.Ile632=
ENST00000645506.1:c.1895_1897delinsTTA	ENSP00000495455.1:p.Ile632=
ENST00000646415.1:c.1895_1897delinsTTA	ENSP00000495543.1:p.Ile632=
ENST00000233146.6:c.1895_1897delinsTTA	ENSP00000233146.2:p.Ile632=
ENST00000406134.5:c.1895_1897delinsTTA	ENSP00000384199.1:p.Ile632=
ENST00000543555.5:c.1697_1699delinsTTA	ENSP00000442697.1:p.Ile566=
ENST00000610696.4:c.291_293delinsTTA	ENSP00000483159.1:n.291_293delinsTTA
ENST00000613514.4:c.435_437delinsTTA	ENSP00000484137.1:n.435_437delinsTTA
ENST00000617333.3:c.661_663delinsTTA	ENSP00000482468.1:n.661_663delinsTTA
ENST00000617938.4:c.867_869delinsTTA	ENSP00000481158.1:n.867_869delinsTTA
ENST00000621359.2:c.1895_1897delinsTTA	ENSP00000481416.1:p.Ile632=
NM_000251.2:c.1895_1897delinsTTA , LRG_218t1:c.1895_1897delinsTTA	NP_000242.1:p.Ile632=
NM_001258281.1:c.1697_1699delinsTTA	NP_001245210.1:p.Ile566=
XM_005264332.2:c.1895_1897delinsTTA	XP_005264389.2:p.Ile632=
XM_011532867.1:c.1895_1897delinsTTA	XP_011531169.1:p.Ile632=
XR_939685.1:n.1967_1969delinsTTA
XM_005264332.4:c.1895_1897delinsTTA	XP_005264389.2:p.Ile632=
XM_011532867.2:c.1895_1897delinsTTA	XP_011531169.1:p.Ile632=
XR_001738747.2:n.1957_1959delinsTTA
XR_939685.2:n.1957_1959delinsTTA
NM_000251.3:c.1895_1897delinsTTA MANE Select	NP_000242.1:p.Ile632=