Canonical Allele Identifier: CA2546534384
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390388_6390389insTTAAT , CM000673.2:g.6390388_6390389insTTAAT GRCh38
NC_000011.9:g.6411618_6411619insTTAAT , CM000673.1:g.6411618_6411619insTTAAT GRCh37
NC_000011.8:g.6368194_6368195insTTAAT NCBI36
NG_011780.1:g.4964_4965insTTAAT

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-211_-210insTTAAT XP_005253132.1:n.-211_-210insTTAAT
XM_011520303.1:c.-211_-210insTTAAT XP_011518605.1:n.-211_-210insTTAAT
XM_011520304.1:c.-211_-210insTTAAT XP_011518606.1:n.-211_-210insTTAAT
XR_930886.1:n.88_89insTTAAT