Canonical Allele Identifier: CA217298822

Gene: SMPD1

Linked Data

• dbSNP Id: rs1044743497
• gnomAD v3: 11-6390413-CA-C
• gnomAD v4: 11-6390413-CA-C
• MyVariant Identifiers: chr11:g.6411644del (hg19) ; chr11:g.6390414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390414del , CM000673.2:g.6390414del	GRCh38
NC_000011.9:g.6411644del , CM000673.1:g.6411644del	GRCh37
NC_000011.8:g.6368220del	NCBI36
NG_011780.1:g.4990del

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-185del	NP_000534.3:n.-185del
NM_001007593.2:c.-185del	NP_001007594.2:n.-185del
XM_005253075.3:c.-185del	XP_005253132.1:n.-185del
XM_011520303.1:c.-185del	XP_011518605.1:n.-185del
XM_011520304.1:c.-185del	XP_011518606.1:n.-185del
XR_930886.1:n.114del
NM_001318087.1:c.-185del	NP_001305016.1:n.-185del
NM_001318088.1:c.-1146del	NP_001305017.1:n.-1146del
NR_027400.2:n.1del
NR_134502.1:n.1del