Canonical Allele Identifier: CA951585734
Gene: WSCD2 HGNC NCBI

Linked Data

dbSNP Id: rs895683674
gnomAD v3: 12-108250201-TGAGAGAGAGA-T
gnomAD v4: 12-108250201-TGAGAGAGAGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250210_108250219del , CM000674.2:g.108250210_108250219del GRCh38
NC_000012.11:g.108643987_108643996del , CM000674.1:g.108643987_108643996del GRCh37
NC_000012.10:g.107168117_107168126del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000547525.6:c.*1867_*1876del MANE Select ENSP00000448047.1:n.*1867_*1876del
ENST00000332082.8:c.*1867_*1876del ENSP00000331933.4:n.*1867_*1876del
NM_001304447.1:c.*1867_*1876del NP_001291376.1:n.*1867_*1876del
NM_014653.3:c.*1867_*1876del NP_055468.2:n.*1867_*1876del
NM_014653.4:c.*1867_*1876del MANE Select NP_055468.2:n.*1867_*1876del
NM_001304447.2:c.*1867_*1876del NP_001291376.1:n.*1867_*1876del
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