Canonical Allele Identifier: CA2678187381

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32850994-T-TGATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32850996_32851000dup , CM000668.2:g.32850996_32851000dup	GRCh38
NC_000006.11:g.32818773_32818777dup , CM000668.1:g.32818773_32818777dup	GRCh37
NC_000006.10:g.32926751_32926755dup	NCBI36
NG_011759.1:g.7973_7977dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698420.1:c.*147_*151dup (TAP1)	ENSP00000513708.1:n.*147_*151dup
ENST00000698421.1:c.845-482_845-478dup (TAP1)	ENSP00000513709.1:n.845-482_845-478dup
ENST00000698422.1:c.995_999dup (TAP1)	ENSP00000513710.1:p.Thr334Ter
ENST00000698423.1:c.995_999dup (TAP1)	ENSP00000513711.1:p.Thr334Ter
ENST00000698424.1:c.995_999dup (TAP1)	ENSP00000513712.1:p.Thr334Ter
ENST00000354258.5:c.995_999dup (TAP1) MANE Select	ENSP00000346206.5:p.Thr334Ter
ENST00000643049.2:c.141+2497_141+2501dup (TAP1)	ENSP00000494148.2:n.141+2497_141+2501dup
ENST00000643923.1:n.431_435dup (TAP1)
ENST00000645078.1:n.590_594dup (TAP1)
ENST00000354258.4:c.1175_1179dup (TAP1)	ENSP00000346206.4:p.Thr394Ter
ENST00000395330.5:c.-9-5142_-9-5138dup (PSMB9)	ENSP00000378739.1:n.-9-5142_-9-5138dup
ENST00000414474.5:c.-9-5142_-9-5138dup (PSMB9)	ENSP00000394363.1:n.-9-5142_-9-5138dup
NM_000593.5:c.1175_1179dup (TAP1)	NP_000584.2:p.Thr394Ter
NM_001292022.1:c.392_396dup (TAP1)	NP_001278951.1:p.Thr133Ter
NM_001292022.2:c.392_396dup (TAP1)	NP_001278951.1:p.Thr133Ter
NM_000593.6:c.995_999dup (TAP1) MANE Select	NP_000584.3:p.Thr334Ter