Canonical Allele Identifier: CA2612220750
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390377_6390382dup , CM000673.2:g.6390377_6390382dup GRCh38
NC_000011.9:g.6411607_6411612dup , CM000673.1:g.6411607_6411612dup GRCh37
NC_000011.8:g.6368183_6368188dup NCBI36
NG_011780.1:g.4953_4958dup

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-222_-217dup XP_005253132.1:n.-222_-217dup
XM_011520303.1:c.-222_-217dup XP_011518605.1:n.-222_-217dup
XM_011520304.1:c.-222_-217dup XP_011518606.1:n.-222_-217dup
XR_930886.1:n.77_82dup