Canonical Allele Identifier: CA1162048238
Gene: SMIM12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823411_34823421delinsACAAAAGATAC , CM000663.2:g.34823411_34823421delinsACAAAAGATAC GRCh38
NC_000001.10:g.35289012_35289022delinsACAAAAGATAC , CM000663.1:g.35289012_35289022delinsACAAAAGATAC GRCh37
NC_000001.9:g.35061599_35061609delinsACAAAAGATAC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32350_207+32360delinsGTATCTTTTGT ENSP00000429902.1:n.207+32350_207+32360delinsGTATCTTTTGT