Canonical Allele Identifier: CA2678189119

Linked Data

gnomAD v4: 6-32847221-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847221C>A , CM000668.2:g.32847221C>A GRCh38
NC_000006.11:g.32814998C>A , CM000668.1:g.32814998C>A GRCh37
NC_000006.10:g.32922976C>A NCBI36
NG_011759.1:g.11751G>T
NG_028165.1:g.2715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1056-17G>T (TAP1) ENSP00000513708.1:n.*1056-17G>T
ENST00000698421.1:c.*798-17G>T (TAP1) ENSP00000513709.1:n.*798-17G>T
ENST00000698422.1:c.1715-17G>T (TAP1) ENSP00000513710.1:n.1715-17G>T
ENST00000698423.1:c.1904-17G>T (TAP1) ENSP00000513711.1:n.1904-17G>T
ENST00000698424.1:c.1775-17G>T (TAP1) ENSP00000513712.1:n.1775-17G>T
ENST00000354258.5:c.1904-17G>T (TAP1) MANE Select ENSP00000346206.5:n.1904-17G>T
ENST00000643049.2:c.449-17G>T (TAP1) ENSP00000494148.2:n.449-17G>T
ENST00000643923.1:n.1340-17G>T (TAP1)
ENST00000645078.1:n.1499-17G>T (TAP1)
ENST00000354258.4:c.2084-17G>T (TAP1) ENSP00000346206.4:n.2084-17G>T
ENST00000395330.5:c.-10+2947C>A (PSMB9) ENSP00000378739.1:n.-10+2947C>A
ENST00000414474.5:c.-10+2351C>A (PSMB9) ENSP00000394363.1:n.-10+2351C>A
ENST00000486332.1:n.1829-17G>T (TAP1)
ENST00000487296.1:n.767G>T (TAP1)
NM_000593.5:c.2084-17G>T (TAP1) NP_000584.2:n.2084-17G>T
NM_001292022.1:c.1301-17G>T (TAP1) NP_001278951.1:n.1301-17G>T
NM_001292022.2:c.1301-17G>T (TAP1) NP_001278951.1:n.1301-17G>T
NM_000593.6:c.1904-17G>T (TAP1) MANE Select NP_000584.3:n.1904-17G>T