Canonical Allele Identifier: CA1162048264
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1640610451
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823470_34823471insGTACCC , CM000663.2:g.34823470_34823471insGTACCC GRCh38
NC_000001.10:g.35289071_35289072insGTACCC , CM000663.1:g.35289071_35289072insGTACCC GRCh37
NC_000001.9:g.35061658_35061659insGTACCC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32300_207+32301insGGGTAC ENSP00000429902.1:n.207+32300_207+32301insGGGTAC
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