Canonical Allele Identifier: CA683317401
Gene: WSCD2 HGNC NCBI

Linked Data

dbSNP Id: rs1263721600
MyVariant Identifiers: chr12:g.108643980_108644006del (hg19) chr12:g.108250203_108250229del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250211_108250237del , CM000674.2:g.108250211_108250237del GRCh38
NC_000012.11:g.108643988_108644014del , CM000674.1:g.108643988_108644014del GRCh37
NC_000012.10:g.107168118_107168144del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547525.6:c.*1868_*1894del MANE Select ENSP00000448047.1:n.*1868_*1894del
ENST00000332082.8:c.*1868_*1894del ENSP00000331933.4:n.*1868_*1894del
NM_001304447.1:c.*1868_*1894del NP_001291376.1:n.*1868_*1894del
NM_014653.3:c.*1868_*1894del NP_055468.2:n.*1868_*1894del
NM_014653.4:c.*1868_*1894del MANE Select NP_055468.2:n.*1868_*1894del
NM_001304447.2:c.*1868_*1894del NP_001291376.1:n.*1868_*1894del
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