Canonical Allele Identifier: CA2832542817

Gene: TAP1 PSMB9

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847175dup , CM000668.2:g.32847175dup	GRCh38
NC_000006.11:g.32814952dup , CM000668.1:g.32814952dup	GRCh37
NC_000006.10:g.32922930dup	NCBI36
NG_011759.1:g.11801dup
NG_028165.1:g.2765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1089dup (TAP1)	ENSP00000513708.1:n.*1089dup
ENST00000698421.1:c.*831dup (TAP1)	ENSP00000513709.1:n.*831dup
ENST00000698422.1:c.1748dup (TAP1)	ENSP00000513710.1:p.Gln584SerfsTer22
ENST00000698423.1:c.1937dup (TAP1)	ENSP00000513711.1:p.Gln647SerfsTer22
ENST00000698424.1:c.1808dup (TAP1)	ENSP00000513712.1:p.Gln604SerfsTer22
ENST00000354258.5:c.1937dup (TAP1) MANE Select	ENSP00000346206.5:p.Gln647SerfsTer22
ENST00000643049.2:c.482dup (TAP1)	ENSP00000494148.2:p.Gln162SerfsTer22
ENST00000643923.1:n.1373dup (TAP1)
ENST00000645078.1:n.1532dup (TAP1)
ENST00000354258.4:c.2117dup (TAP1)	ENSP00000346206.4:p.Gln707SerfsTer22
ENST00000395330.5:c.-10+2901dup (PSMB9)	ENSP00000378739.1:n.-10+2901dup
ENST00000414474.5:c.-10+2305dup (PSMB9)	ENSP00000394363.1:n.-10+2305dup
ENST00000486332.1:n.1862dup (TAP1)
ENST00000487296.1:n.817dup (TAP1)
NM_000593.5:c.2117dup (TAP1)	NP_000584.2:p.Gln707SerfsTer22
NM_001292022.1:c.1334dup (TAP1)	NP_001278951.1:p.Gln446SerfsTer22
NM_001292022.2:c.1334dup (TAP1)	NP_001278951.1:p.Gln446SerfsTer22
NM_000593.6:c.1937dup (TAP1) MANE Select	NP_000584.3:p.Gln647SerfsTer22