Canonical Allele Identifier: CA2578579820

Linked Data

gnomAD v4: 6-32848598-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32848598G>A , CM000668.2:g.32848598G>A GRCh38
NC_000006.11:g.32816375G>A , CM000668.1:g.32816375G>A GRCh37
NC_000006.10:g.32924353G>A NCBI36
NG_011759.1:g.10374C>T
NG_028165.1:g.1338C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698420.1:c.*718+54C>T (TAP1) ENSP00000513708.1:n.*718+54C>T
ENST00000698421.1:c.*460+54C>T (TAP1) ENSP00000513709.1:n.*460+54C>T
ENST00000698422.1:c.1377+392C>T (TAP1) ENSP00000513710.1:n.1377+392C>T
ENST00000698423.1:c.1566+54C>T (TAP1) ENSP00000513711.1:n.1566+54C>T
ENST00000698424.1:c.1437+54C>T (TAP1) ENSP00000513712.1:n.1437+54C>T
ENST00000354258.5:c.1566+54C>T (TAP1) MANE Select ENSP00000346206.5:n.1566+54C>T
ENST00000643049.2:c.142-536C>T (TAP1) ENSP00000494148.2:n.142-536C>T
ENST00000643923.1:n.1002+54C>T (TAP1)
ENST00000645078.1:n.1161+54C>T (TAP1)
ENST00000354258.4:c.1746+54C>T (TAP1) ENSP00000346206.4:n.1746+54C>T
ENST00000395330.5:c.-10+4324G>A (PSMB9) ENSP00000378739.1:n.-10+4324G>A
ENST00000414474.5:c.-10+3728G>A (PSMB9) ENSP00000394363.1:n.-10+3728G>A
ENST00000486332.1:n.1491+54C>T (TAP1)
NM_000593.5:c.1746+54C>T (TAP1) NP_000584.2:n.1746+54C>T
NM_001292022.1:c.963+54C>T (TAP1) NP_001278951.1:n.963+54C>T
NM_001292022.2:c.963+54C>T (TAP1) NP_001278951.1:n.963+54C>T
NM_000593.6:c.1566+54C>T (TAP1) MANE Select NP_000584.3:n.1566+54C>T