Canonical Allele Identifier: CA1950145581

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390552_6390553delinsCG , CM000673.2:g.6390552_6390553delinsCG	GRCh38
NC_000011.9:g.6411782_6411783delinsCG , CM000673.1:g.6411782_6411783delinsCG	GRCh37
NC_000011.8:g.6368358_6368359delinsCG	NCBI36
NG_011780.1:g.5128_5129delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-47_-46delinsCG MANE Select	ENSP00000340409.4:n.-47_-46delinsCG
ENST00000342245.8:c.-47_-46delinsCG	ENSP00000340409.4:n.-47_-46delinsCG
ENST00000527275.5:c.-47_-46delinsCG	ENSP00000435350.1:n.-47_-46delinsCG
ENST00000530395.1:c.-183_-182delinsCG	ENSP00000431479.1:n.-183_-182delinsCG
ENST00000533123.5:c.-47_-46delinsCG	ENSP00000435950.1:n.-47_-46delinsCG
ENST00000533196.1:n.113_114delinsCG
ENST00000534405.5:c.-47_-46delinsCG	ENSP00000434353.1:n.-47_-46delinsCG
NM_000543.4:c.-47_-46delinsCG	NP_000534.3:n.-47_-46delinsCG
NM_001007593.2:c.-47_-46delinsCG	NP_001007594.2:n.-47_-46delinsCG
XM_005253075.3:c.-47_-46delinsCG	XP_005253132.1:n.-47_-46delinsCG
XM_011520303.1:c.-47_-46delinsCG	XP_011518605.1:n.-47_-46delinsCG
XM_011520304.1:c.-47_-46delinsCG	XP_011518606.1:n.-47_-46delinsCG
XR_930886.1:n.252_253delinsCG
NM_001318087.1:c.-47_-46delinsCG	NP_001305016.1:n.-47_-46delinsCG
NM_001318088.1:c.-1008_-1007delinsCG	NP_001305017.1:n.-1008_-1007delinsCG
NM_001365135.1:c.-47_-46delinsCG	NP_001352064.1:n.-47_-46delinsCG
NR_027400.2:n.139_140delinsCG
NR_134502.1:n.139_140delinsCG
XM_011520304.2:c.-47_-46delinsCG	XP_011518606.1:n.-47_-46delinsCG
XR_001747940.2:n.79_80delinsCG
XR_002957158.1:n.79_80delinsCG
NM_000543.5:c.-47_-46delinsCG MANE Select	NP_000534.3:n.-47_-46delinsCG
NM_001007593.3:c.-47_-46delinsCG	NP_001007594.2:n.-47_-46delinsCG
NM_001318087.2:c.-47_-46delinsCG	NP_001305016.1:n.-47_-46delinsCG
NM_001318088.2:c.-1008_-1007delinsCG	NP_001305017.1:n.-1008_-1007delinsCG
NM_001365135.2:c.-47_-46delinsCG	NP_001352064.1:n.-47_-46delinsCG
NR_027400.3:n.79_80delinsCG
NR_134502.2:n.79_80delinsCG