Canonical Allele Identifier: CA679148453

Gene: SMPD1

Linked Data

• dbSNP Id: rs1211043001
• MyVariant Identifiers: chr11:g.6411657_6411662del (hg19) ; chr11:g.6390427_6390432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390427_6390432del , CM000673.2:g.6390427_6390432del	GRCh38
NC_000011.9:g.6411657_6411662del , CM000673.1:g.6411657_6411662del	GRCh37
NC_000011.8:g.6368233_6368238del	NCBI36
NG_011780.1:g.5003_5008del

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-172_-167del	NP_000534.3:n.-172_-167del
NM_001007593.2:c.-172_-167del	NP_001007594.2:n.-172_-167del
XM_005253075.3:c.-172_-167del	XP_005253132.1:n.-172_-167del
XM_011520303.1:c.-172_-167del	XP_011518605.1:n.-172_-167del
XM_011520304.1:c.-172_-167del	XP_011518606.1:n.-172_-167del
XR_930886.1:n.127_132del
NM_001318087.1:c.-172_-167del	NP_001305016.1:n.-172_-167del
NM_001318088.1:c.-1133_-1128del	NP_001305017.1:n.-1133_-1128del
NR_027400.2:n.14_19del
NR_134502.1:n.14_19del