Canonical Allele Identifier: CA1087615484

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1770489229
• gnomAD v3: 6-32847243-CAT-C
• gnomAD v4: 6-32847243-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847244_32847245del , CM000668.2:g.32847244_32847245del	GRCh38
NC_000006.11:g.32815021_32815022del , CM000668.1:g.32815021_32815022del	GRCh37
NC_000006.10:g.32922999_32923000del	NCBI36
NG_011759.1:g.11727_11728del
NG_028165.1:g.2691_2692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1056-41_*1056-40del (TAP1)	ENSP00000513708.1:n.*1056-41_*1056-40del
ENST00000698421.1:c.*798-41_*798-40del (TAP1)	ENSP00000513709.1:n.*798-41_*798-40del
ENST00000698422.1:c.1715-41_1715-40del (TAP1)	ENSP00000513710.1:n.1715-41_1715-40del
ENST00000698423.1:c.1904-41_1904-40del (TAP1)	ENSP00000513711.1:n.1904-41_1904-40del
ENST00000698424.1:c.1775-41_1775-40del (TAP1)	ENSP00000513712.1:n.1775-41_1775-40del
ENST00000354258.5:c.1904-41_1904-40del (TAP1) MANE Select	ENSP00000346206.5:n.1904-41_1904-40del
ENST00000643049.2:c.449-41_449-40del (TAP1)	ENSP00000494148.2:n.449-41_449-40del
ENST00000643923.1:n.1340-41_1340-40del (TAP1)
ENST00000645078.1:n.1499-41_1499-40del (TAP1)
ENST00000354258.4:c.2084-41_2084-40del (TAP1)	ENSP00000346206.4:n.2084-41_2084-40del
ENST00000395330.5:c.-10+2970_-10+2971del (PSMB9)	ENSP00000378739.1:n.-10+2970_-10+2971del
ENST00000414474.5:c.-10+2374_-10+2375del (PSMB9)	ENSP00000394363.1:n.-10+2374_-10+2375del
ENST00000486332.1:n.1829-41_1829-40del (TAP1)
ENST00000487296.1:n.743_744del (TAP1)
NM_000593.5:c.2084-41_2084-40del (TAP1)	NP_000584.2:n.2084-41_2084-40del
NM_001292022.1:c.1301-41_1301-40del (TAP1)	NP_001278951.1:n.1301-41_1301-40del
NM_001292022.2:c.1301-41_1301-40del (TAP1)	NP_001278951.1:n.1301-41_1301-40del
NM_000593.6:c.1904-41_1904-40del (TAP1) MANE Select	NP_000584.3:n.1904-41_1904-40del