Canonical Allele Identifier: CA2612220626

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390305-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390308del , CM000673.2:g.6390308del	GRCh38
NC_000011.9:g.6411538del , CM000673.1:g.6411538del	GRCh37
NC_000011.8:g.6368114del	NCBI36
NG_011780.1:g.4884del

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-291del	XP_005253132.1:n.-291del
XM_011520303.1:c.-291del	XP_011518605.1:n.-291del
XM_011520304.1:c.-291del	XP_011518606.1:n.-291del
XR_930886.1:n.8del