Canonical Allele Identifier: CA2620705726
Gene: WSCD2 HGNC NCBI

Linked Data

gnomAD v4: 12-108250210-GAGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250211_108250213del , CM000674.2:g.108250211_108250213del GRCh38
NC_000012.11:g.108643988_108643990del , CM000674.1:g.108643988_108643990del GRCh37
NC_000012.10:g.107168118_107168120del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547525.6:c.*1868_*1870del MANE Select ENSP00000448047.1:n.*1868_*1870del
ENST00000332082.8:c.*1868_*1870del ENSP00000331933.4:n.*1868_*1870del
NM_001304447.1:c.*1868_*1870del NP_001291376.1:n.*1868_*1870del
NM_014653.3:c.*1868_*1870del NP_055468.2:n.*1868_*1870del
NM_014653.4:c.*1868_*1870del MANE Select NP_055468.2:n.*1868_*1870del
NM_001304447.2:c.*1868_*1870del NP_001291376.1:n.*1868_*1870del
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