Canonical Allele Identifier: CA2678189009

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32846954-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32846955_32846956del , CM000668.2:g.32846955_32846956del	GRCh38
NC_000006.11:g.32814732_32814733del , CM000668.1:g.32814732_32814733del	GRCh37
NC_000006.10:g.32922710_32922711del	NCBI36
NG_011759.1:g.12016_12017del
NG_028165.1:g.2980_2981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1192+112_*1192+113del (TAP1)	ENSP00000513708.1:n.*1192+112_*1192+113del
ENST00000698421.1:c.*934+112_*934+113del (TAP1)	ENSP00000513709.1:n.*934+112_*934+113del
ENST00000698422.1:c.1851+112_1851+113del (TAP1)	ENSP00000513710.1:n.1851+112_1851+113del
ENST00000698423.1:c.2040+112_2040+113del (TAP1)	ENSP00000513711.1:n.2040+112_2040+113del
ENST00000698424.1:c.1911+112_1911+113del (TAP1)	ENSP00000513712.1:n.1911+112_1911+113del
ENST00000354258.5:c.2040+112_2040+113del (TAP1) MANE Select	ENSP00000346206.5:n.2040+112_2040+113del
ENST00000643049.2:c.585+112_585+113del (TAP1)	ENSP00000494148.2:n.585+112_585+113del
ENST00000643923.1:n.1476+112_1476+113del (TAP1)
ENST00000645078.1:n.1635+112_1635+113del (TAP1)
ENST00000354258.4:c.2220+112_2220+113del (TAP1)	ENSP00000346206.4:n.2220+112_2220+113del
ENST00000395330.5:c.-10+2681_-10+2682del (PSMB9)	ENSP00000378739.1:n.-10+2681_-10+2682del
ENST00000414474.5:c.-10+2085_-10+2086del (PSMB9)	ENSP00000394363.1:n.-10+2085_-10+2086del
ENST00000486332.1:n.1965+112_1965+113del (TAP1)
ENST00000487296.1:n.920+112_920+113del (TAP1)
NM_000593.5:c.2220+112_2220+113del (TAP1)	NP_000584.2:n.2220+112_2220+113del
NM_001292022.1:c.1437+112_1437+113del (TAP1)	NP_001278951.1:n.1437+112_1437+113del
NM_001292022.2:c.1437+112_1437+113del (TAP1)	NP_001278951.1:n.1437+112_1437+113del
NM_000593.6:c.2040+112_2040+113del (TAP1) MANE Select	NP_000584.3:n.2040+112_2040+113del