Canonical Allele Identifier: CA566698079

Gene: TAP1 PSMB9

Linked Data

• dbSNP Id: rs1562370900
• gnomAD v2: 6-32818774-T-TGAC
• gnomAD v3: 6-32850997-T-TGAC
• gnomAD v4: 6-32850997-T-TGAC
• MyVariant Identifiers: chr6:g.32818774_32818775insGAC (hg19) ; chr6:g.32850997_32850998insGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32850997_32850998insGAC , CM000668.2:g.32850997_32850998insGAC	GRCh38
NC_000006.11:g.32818774_32818775insGAC , CM000668.1:g.32818774_32818775insGAC	GRCh37
NC_000006.10:g.32926752_32926753insGAC	NCBI36
NG_011759.1:g.7974_7975insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*148_*149insGTC (TAP1)	ENSP00000513708.1:n.*148_*149insGTC
ENST00000698421.1:c.845-481_845-480insGTC (TAP1)	ENSP00000513709.1:n.845-481_845-480insGTC
ENST00000698422.1:c.996_997insGTC (TAP1)	ENSP00000513710.1:p.Leu332_Ile333insVal
ENST00000698423.1:c.996_997insGTC (TAP1)	ENSP00000513711.1:p.Leu332_Ile333insVal
ENST00000698424.1:c.996_997insGTC (TAP1)	ENSP00000513712.1:p.Leu332_Ile333insVal
ENST00000354258.5:c.996_997insGTC (TAP1) MANE Select	ENSP00000346206.5:p.Leu332_Ile333insVal
ENST00000643049.2:c.141+2498_141+2499insGTC (TAP1)	ENSP00000494148.2:n.141+2498_141+2499insGTC
ENST00000643923.1:n.432_433insGTC (TAP1)
ENST00000645078.1:n.591_592insGTC (TAP1)
ENST00000354258.4:c.1176_1177insGTC (TAP1)	ENSP00000346206.4:p.Leu392_Ile393insVal
ENST00000395330.5:c.-9-5141_-9-5140insGAC (PSMB9)	ENSP00000378739.1:n.-9-5141_-9-5140insGAC
ENST00000414474.5:c.-9-5141_-9-5140insGAC (PSMB9)	ENSP00000394363.1:n.-9-5141_-9-5140insGAC
NM_000593.5:c.1176_1177insGTC (TAP1)	NP_000584.2:p.Leu392_Ile393insVal
NM_001292022.1:c.393_394insGTC (TAP1)	NP_001278951.1:p.Leu131_Ile132insVal
NM_001292022.2:c.393_394insGTC (TAP1)	NP_001278951.1:p.Leu131_Ile132insVal
NM_000593.6:c.996_997insGTC (TAP1) MANE Select	NP_000584.3:p.Leu332_Ile333insVal