Canonical Allele Identifier: CA2678188999

Linked Data

gnomAD v4: 6-32846947-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32846947T>G , CM000668.2:g.32846947T>G GRCh38
NC_000006.11:g.32814724T>G , CM000668.1:g.32814724T>G GRCh37
NC_000006.10:g.32922702T>G NCBI36
NG_011759.1:g.12025A>C
NG_028165.1:g.2989A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1192+121A>C (TAP1) ENSP00000513708.1:n.*1192+121A>C
ENST00000698421.1:c.*934+121A>C (TAP1) ENSP00000513709.1:n.*934+121A>C
ENST00000698422.1:c.1851+121A>C (TAP1) ENSP00000513710.1:n.1851+121A>C
ENST00000698423.1:c.2040+121A>C (TAP1) ENSP00000513711.1:n.2040+121A>C
ENST00000698424.1:c.1911+121A>C (TAP1) ENSP00000513712.1:n.1911+121A>C
ENST00000354258.5:c.2040+121A>C (TAP1) MANE Select ENSP00000346206.5:n.2040+121A>C
ENST00000643049.2:c.585+121A>C (TAP1) ENSP00000494148.2:n.585+121A>C
ENST00000643923.1:n.1476+121A>C (TAP1)
ENST00000645078.1:n.1635+121A>C (TAP1)
ENST00000354258.4:c.2220+121A>C (TAP1) ENSP00000346206.4:n.2220+121A>C
ENST00000395330.5:c.-10+2673T>G (PSMB9) ENSP00000378739.1:n.-10+2673T>G
ENST00000414474.5:c.-10+2077T>G (PSMB9) ENSP00000394363.1:n.-10+2077T>G
ENST00000486332.1:n.1965+121A>C (TAP1)
ENST00000487296.1:n.920+121A>C (TAP1)
NM_000593.5:c.2220+121A>C (TAP1) NP_000584.2:n.2220+121A>C
NM_001292022.1:c.1437+121A>C (TAP1) NP_001278951.1:n.1437+121A>C
NM_001292022.2:c.1437+121A>C (TAP1) NP_001278951.1:n.1437+121A>C
NM_000593.6:c.2040+121A>C (TAP1) MANE Select NP_000584.3:n.2040+121A>C