Canonical Allele Identifier: CA1950145497

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390426_6390432delinsTCAGAGG , CM000673.2:g.6390426_6390432delinsTCAGAGG	GRCh38
NC_000011.9:g.6411656_6411662delinsTCAGAGG , CM000673.1:g.6411656_6411662delinsTCAGAGG	GRCh37
NC_000011.8:g.6368232_6368238delinsTCAGAGG	NCBI36
NG_011780.1:g.5002_5008delinsTCAGAGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-173_-167delinsTCAGAGG	NP_000534.3:n.-173_-167delinsTCAGAGG
NM_001007593.2:c.-173_-167delinsTCAGAGG	NP_001007594.2:n.-173_-167delinsTCAGAGG
XM_005253075.3:c.-173_-167delinsTCAGAGG	XP_005253132.1:n.-173_-167delinsTCAGAGG
XM_011520303.1:c.-173_-167delinsTCAGAGG	XP_011518605.1:n.-173_-167delinsTCAGAGG
XM_011520304.1:c.-173_-167delinsTCAGAGG	XP_011518606.1:n.-173_-167delinsTCAGAGG
XR_930886.1:n.126_132delinsTCAGAGG
NM_001318087.1:c.-173_-167delinsTCAGAGG	NP_001305016.1:n.-173_-167delinsTCAGAGG
NM_001318088.1:c.-1134_-1128delinsTCAGAGG	NP_001305017.1:n.-1134_-1128delinsTCAGAGG
NR_027400.2:n.13_19delinsTCAGAGG
NR_134502.1:n.13_19delinsTCAGAGG