Canonical Allele Identifier: CA2678190789

Linked Data

gnomAD v4: 6-32848581-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32848581G>A , CM000668.2:g.32848581G>A GRCh38
NC_000006.11:g.32816358G>A , CM000668.1:g.32816358G>A GRCh37
NC_000006.10:g.32924336G>A NCBI36
NG_011759.1:g.10391C>T
NG_028165.1:g.1355C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698420.1:c.*718+71C>T (TAP1) ENSP00000513708.1:n.*718+71C>T
ENST00000698421.1:c.*460+71C>T (TAP1) ENSP00000513709.1:n.*460+71C>T
ENST00000698422.1:c.1377+409C>T (TAP1) ENSP00000513710.1:n.1377+409C>T
ENST00000698423.1:c.1566+71C>T (TAP1) ENSP00000513711.1:n.1566+71C>T
ENST00000698424.1:c.1437+71C>T (TAP1) ENSP00000513712.1:n.1437+71C>T
ENST00000354258.5:c.1566+71C>T (TAP1) MANE Select ENSP00000346206.5:n.1566+71C>T
ENST00000643049.2:c.142-519C>T (TAP1) ENSP00000494148.2:n.142-519C>T
ENST00000643923.1:n.1002+71C>T (TAP1)
ENST00000645078.1:n.1161+71C>T (TAP1)
ENST00000354258.4:c.1746+71C>T (TAP1) ENSP00000346206.4:n.1746+71C>T
ENST00000395330.5:c.-10+4307G>A (PSMB9) ENSP00000378739.1:n.-10+4307G>A
ENST00000414474.5:c.-10+3711G>A (PSMB9) ENSP00000394363.1:n.-10+3711G>A
ENST00000486332.1:n.1491+71C>T (TAP1)
NM_000593.5:c.1746+71C>T (TAP1) NP_000584.2:n.1746+71C>T
NM_001292022.1:c.963+71C>T (TAP1) NP_001278951.1:n.963+71C>T
NM_001292022.2:c.963+71C>T (TAP1) NP_001278951.1:n.963+71C>T
NM_000593.6:c.1566+71C>T (TAP1) MANE Select NP_000584.3:n.1566+71C>T