Canonical Allele Identifier: CA1148403097

Gene: SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823345_34823351delinsAAAAAAA , CM000663.2:g.34823345_34823351delinsAAAAAAA	GRCh38
NC_000001.10:g.35288946_35288952delinsAAAAAAA , CM000663.1:g.35288946_35288952delinsAAAAAAA	GRCh37
NC_000001.9:g.35061533_35061539delinsAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426886.1:c.207+32420_207+32426delinsTTTTTTT	ENSP00000429902.1:n.207+32420_207+32426delinsTTTTTTT