Canonical Allele Identifier: CA566698072

Gene: TAP1 PSMB9

Linked Data

• gnomAD v2: 6-32818701-G-GTGGTC
• gnomAD v3: 6-32850924-G-GTGGTC
• gnomAD v4: 6-32850924-G-GTGGTC
• MyVariant Identifiers: chr6:g.32818701_32818702insTGGTC (hg19) ; chr6:g.32850924_32850925insTGGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32850924_32850925insTGGTC , CM000668.2:g.32850924_32850925insTGGTC	GRCh38
NC_000006.11:g.32818701_32818702insTGGTC , CM000668.1:g.32818701_32818702insTGGTC	GRCh37
NC_000006.10:g.32926679_32926680insTGGTC	NCBI36
NG_011759.1:g.8047_8048insGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*202+19_*202+20insGACCA (TAP1)	ENSP00000513708.1:n.*202+19_*202+20insGACCA
ENST00000698421.1:c.845-408_845-407insGACCA (TAP1)	ENSP00000513709.1:n.845-408_845-407insGACCA
ENST00000698422.1:c.1050+19_1050+20insGACCA (TAP1)	ENSP00000513710.1:n.1050+19_1050+20insGACCA
ENST00000698423.1:c.1050+19_1050+20insGACCA (TAP1)	ENSP00000513711.1:n.1050+19_1050+20insGACCA
ENST00000698424.1:c.1050+19_1050+20insGACCA (TAP1)	ENSP00000513712.1:n.1050+19_1050+20insGACCA
ENST00000354258.5:c.1050+19_1050+20insGACCA (TAP1) MANE Select	ENSP00000346206.5:n.1050+19_1050+20insGACCA
ENST00000643049.2:c.141+2571_141+2572insGACCA (TAP1)	ENSP00000494148.2:n.141+2571_141+2572insGACCA
ENST00000643923.1:n.486+19_486+20insGACCA (TAP1)
ENST00000645078.1:n.645+19_645+20insGACCA (TAP1)
ENST00000354258.4:c.1230+19_1230+20insGACCA (TAP1)	ENSP00000346206.4:n.1230+19_1230+20insGACCA
ENST00000395330.5:c.-9-5214_-9-5213insTGGTC (PSMB9)	ENSP00000378739.1:n.-9-5214_-9-5213insTGGTC
ENST00000414474.5:c.-9-5214_-9-5213insTGGTC (PSMB9)	ENSP00000394363.1:n.-9-5214_-9-5213insTGGTC
NM_000593.5:c.1230+19_1230+20insGACCA (TAP1)	NP_000584.2:n.1230+19_1230+20insGACCA
NM_001292022.1:c.447+19_447+20insGACCA (TAP1)	NP_001278951.1:n.447+19_447+20insGACCA
NM_001292022.2:c.447+19_447+20insGACCA (TAP1)	NP_001278951.1:n.447+19_447+20insGACCA
NM_000593.6:c.1050+19_1050+20insGACCA (TAP1) MANE Select	NP_000584.3:n.1050+19_1050+20insGACCA