Canonical Allele Identifier: CA1162048239
Gene: SMIM12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823412_34823413delinsCA , CM000663.2:g.34823412_34823413delinsCA GRCh38
NC_000001.10:g.35289013_35289014delinsCA , CM000663.1:g.35289013_35289014delinsCA GRCh37
NC_000001.9:g.35061600_35061601delinsCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32358_207+32359delinsTG ENSP00000429902.1:n.207+32358_207+32359delinsTG