Canonical Allele Identifier: CA2503048466
Gene: WSCD2 HGNC NCBI

Linked Data

gnomAD v4: 12-108250218-GACA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250222_108250224del , CM000674.2:g.108250222_108250224del GRCh38
NC_000012.11:g.108643999_108644001del , CM000674.1:g.108643999_108644001del GRCh37
NC_000012.10:g.107168129_107168131del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547525.6:c.*1879_*1881del MANE Select ENSP00000448047.1:n.*1879_*1881del
ENST00000332082.8:c.*1879_*1881del ENSP00000331933.4:n.*1879_*1881del
NM_001304447.1:c.*1879_*1881del NP_001291376.1:n.*1879_*1881del
NM_014653.3:c.*1879_*1881del NP_055468.2:n.*1879_*1881del
NM_014653.4:c.*1879_*1881del MANE Select NP_055468.2:n.*1879_*1881del
NM_001304447.2:c.*1879_*1881del NP_001291376.1:n.*1879_*1881del
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