Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54857933_54857936delinsTATA , CM000676.2:g.54857933_54857936delinsTATA	GRCh38
NC_000014.8:g.55324651_55324654delinsTATA , CM000676.1:g.55324651_55324654delinsTATA	GRCh37
NC_000014.7:g.54394401_54394404delinsTATA	NCBI36
NG_008647.1:g.49889_49892delinsTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.509+1745_509+1748delinsTATA MANE Select	ENSP00000419045.2:n.509+1745_509+1748delinsTATA
ENST00000254299.8:n.657+1745_657+1748delinsTATA
ENST00000395514.5:c.509+1745_509+1748delinsTATA	ENSP00000378890.1:n.509+1745_509+1748delinsTATA
ENST00000395521.6:n.292+1745_292+1748delinsTATA
ENST00000491895.6:c.509+1745_509+1748delinsTATA	ENSP00000419045.2:n.509+1745_509+1748delinsTATA
ENST00000536224.2:c.509+1745_509+1748delinsTATA	ENSP00000445246.2:n.509+1745_509+1748delinsTATA
ENST00000543643.6:c.509+1745_509+1748delinsTATA	ENSP00000444011.2:n.509+1745_509+1748delinsTATA
ENST00000622544.4:c.509+1745_509+1748delinsTATA	ENSP00000477796.1:n.509+1745_509+1748delinsTATA
NM_000161.2:c.509+1745_509+1748delinsTATA	NP_000152.1:n.509+1745_509+1748delinsTATA
NM_001024024.1:c.509+1745_509+1748delinsTATA	NP_001019195.1:n.509+1745_509+1748delinsTATA
NM_001024070.1:c.509+1745_509+1748delinsTATA	NP_001019241.1:n.509+1745_509+1748delinsTATA
NM_001024071.1:c.509+1745_509+1748delinsTATA	NP_001019242.1:n.509+1745_509+1748delinsTATA
XM_005267530.1:c.509+1745_509+1748delinsTATA	XP_005267587.1:n.509+1745_509+1748delinsTATA
XM_011536643.1:c.510-1169_510-1166delinsTATA	XP_011534945.1:n.510-1169_510-1166delinsTATA
XM_017021218.1:c.215+1745_215+1748delinsTATA	XP_016876707.1:n.215+1745_215+1748delinsTATA
NM_000161.3:c.509+1745_509+1748delinsTATA MANE Select	NP_000152.1:n.509+1745_509+1748delinsTATA
NM_001024070.2:c.509+1745_509+1748delinsTATA	NP_001019241.1:n.509+1745_509+1748delinsTATA
NM_001024071.2:c.509+1745_509+1748delinsTATA	NP_001019242.1:n.509+1745_509+1748delinsTATA
NM_001024024.2:c.509+1745_509+1748delinsTATA	NP_001019195.1:n.509+1745_509+1748delinsTATA