Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868586_81868587delinsTG , CM000679.2:g.81868586_81868587delinsTG	GRCh38
NC_000017.10:g.79826462_79826463delinsTG , CM000679.1:g.79826462_79826463delinsTG	GRCh37
NC_000017.9:g.77419751_77419752delinsTG	NCBI36
NG_034210.1:g.7820_7821delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.289_290delinsCA MANE Select	ENSP00000269321.7:n.289_290delinsCA
ENST00000269321.11:c.289_290delinsCA	ENSP00000269321.7:n.289_290delinsCA
ENST00000400721.8:c.289_290delinsCA	ENSP00000383556.4:n.289_290delinsCA
ENST00000541078.6:c.289_290delinsCA	ENSP00000441348.2:n.289_290delinsCA
ENST00000579121.5:c.503-3_503-2delinsCA	ENSP00000462960.1:n.503-3_503-2delinsCA
ENST00000580685.5:c.289_290delinsCA	ENSP00000464205.1:n.289_290delinsCA
ENST00000582520.1:n.44_45delinsCA
ENST00000584461.5:c.503-3_503-2delinsCA	ENSP00000463939.1:n.503-3_503-2delinsCA
NM_001185077.2:c.289_290delinsCA	NP_001172006.1:n.289_290delinsCA
NM_001185078.2:c.289_290delinsCA	NP_001172007.1:n.289_290delinsCA
NM_001301240.1:c.503-3_503-2delinsCA	NP_001288169.1:n.503-3_503-2delinsCA
NM_001301241.1:c.503-3_503-2delinsCA	NP_001288170.1:n.503-3_503-2delinsCA
NM_001301242.1:c.792_793delinsCA	NP_001288171.1:p.Pro264=
NM_001301243.1:c.289_290delinsCA	NP_001288172.1:n.289_290delinsCA
NM_004309.5:c.289_290delinsCA	NP_004300.1:n.289_290delinsCA
NR_125441.1:n.963_964delinsCA
XM_011523574.1:c.289_290delinsCA	XP_011521876.1:n.289_290delinsCA
NM_004309.6:c.289_290delinsCA MANE Select	NP_004300.1:n.289_290delinsCA
NM_001185077.3:c.289_290delinsCA	NP_001172006.1:n.289_290delinsCA
NM_001185078.3:c.289_290delinsCA	NP_001172007.1:n.289_290delinsCA
NM_001301240.2:c.503-3_503-2delinsCA	NP_001288169.1:n.503-3_503-2delinsCA
NM_001301241.2:c.503-3_503-2delinsCA	NP_001288170.1:n.503-3_503-2delinsCA
NM_001301242.2:c.792_793delinsCA	NP_001288171.1:p.Pro264=
NM_001301243.2:c.289_290delinsCA	NP_001288172.1:n.289_290delinsCA
NR_125441.2:n.894_895delinsCA

HGVS	Amino-acid Change
ENST00000269321.12:c.289_290delinsCA MANE Select	ENSP00000269321.7:n.289_290delinsCA
ENST00000269321.11:c.289_290delinsCA	ENSP00000269321.7:n.289_290delinsCA
ENST00000400721.8:c.289_290delinsCA	ENSP00000383556.4:n.289_290delinsCA
ENST00000541078.6:c.289_290delinsCA	ENSP00000441348.2:n.289_290delinsCA
ENST00000579121.5:c.503-3_503-2delinsCA	ENSP00000462960.1:n.503-3_503-2delinsCA
ENST00000580685.5:c.289_290delinsCA	ENSP00000464205.1:n.289_290delinsCA
ENST00000582520.1:n.44_45delinsCA
ENST00000584461.5:c.503-3_503-2delinsCA	ENSP00000463939.1:n.503-3_503-2delinsCA
NM_001185077.2:c.289_290delinsCA	NP_001172006.1:n.289_290delinsCA
NM_001185078.2:c.289_290delinsCA	NP_001172007.1:n.289_290delinsCA
NM_001301240.1:c.503-3_503-2delinsCA	NP_001288169.1:n.503-3_503-2delinsCA
NM_001301241.1:c.503-3_503-2delinsCA	NP_001288170.1:n.503-3_503-2delinsCA
NM_001301242.1:c.792_793delinsCA	NP_001288171.1:p.Pro264=
NM_001301243.1:c.289_290delinsCA	NP_001288172.1:n.289_290delinsCA
NM_004309.5:c.289_290delinsCA	NP_004300.1:n.289_290delinsCA
NR_125441.1:n.963_964delinsCA
XM_011523574.1:c.289_290delinsCA	XP_011521876.1:n.289_290delinsCA
NM_004309.6:c.289_290delinsCA MANE Select	NP_004300.1:n.289_290delinsCA
NM_001185077.3:c.289_290delinsCA	NP_001172006.1:n.289_290delinsCA
NM_001185078.3:c.289_290delinsCA	NP_001172007.1:n.289_290delinsCA
NM_001301240.2:c.503-3_503-2delinsCA	NP_001288169.1:n.503-3_503-2delinsCA
NM_001301241.2:c.503-3_503-2delinsCA	NP_001288170.1:n.503-3_503-2delinsCA
NM_001301242.2:c.792_793delinsCA	NP_001288171.1:p.Pro264=
NM_001301243.2:c.289_290delinsCA	NP_001288172.1:n.289_290delinsCA
NR_125441.2:n.894_895delinsCA