Canonical Allele Identifier: CA20553887
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs746666928
gnomAD v2: 1-35288945-TA-T
gnomAD v3: 1-34823344-TA-T
gnomAD v4: 1-34823344-TA-T
MyVariant Identifiers: chr1:g.35288946del (hg19) chr1:g.34823345del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823351del , CM000663.2:g.34823351del GRCh38
NC_000001.10:g.35288952del , CM000663.1:g.35288952del GRCh37
NC_000001.9:g.35061539del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32426del ENSP00000429902.1:n.207+32426del
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