Canonical Allele Identifier: CA2695213105

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390730_6390734del , CM000673.2:g.6390730_6390734del	GRCh38
NC_000011.9:g.6411960_6411964del , CM000673.1:g.6411960_6411964del	GRCh37
NC_000011.8:g.6368536_6368540del	NCBI36
NG_011780.1:g.5306_5310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.132_136del MANE Select	ENSP00000340409.4:p.Leu45AlafsTer5
ENST00000342245.8:c.132_136del	ENSP00000340409.4:p.Leu45AlafsTer5
ENST00000527275.5:c.132_136del	ENSP00000435350.1:p.Leu45AlafsTer5
ENST00000530395.1:c.-96+91_-96+95del	ENSP00000431479.1:n.-96+91_-96+95del
ENST00000531303.5:c.132_136del	ENSP00000432625.1:p.Leu45AlafsTer5
ENST00000533123.5:c.132_136del	ENSP00000435950.1:p.Leu45AlafsTer5
ENST00000533196.1:n.291_295del
ENST00000534405.5:c.132_136del	ENSP00000434353.1:p.Leu45AlafsTer5
NM_000543.4:c.132_136del	NP_000534.3:p.Leu45AlafsTer5
NM_001007593.2:c.132_136del	NP_001007594.2:p.Leu45AlafsTer5
XM_005253075.3:c.132_136del	XP_005253132.1:p.Leu45AlafsTer5
XM_011520303.1:c.132_136del	XP_011518605.1:p.Leu45AlafsTer5
XM_011520304.1:c.132_136del	XP_011518606.1:p.Leu45AlafsTer5
XR_930886.1:n.430_434del
NM_001318087.1:c.132_136del	NP_001305016.1:p.Leu45AlafsTer5
NM_001318088.1:c.-830_-826del	NP_001305017.1:n.-830_-826del
NM_001365135.1:c.132_136del	NP_001352064.1:p.Leu45AlafsTer5
NR_027400.2:n.317_321del
NR_134502.1:n.317_321del
XM_011520304.2:c.132_136del	XP_011518606.1:p.Leu45AlafsTer5
XR_001747940.2:n.257_261del
XR_002957158.1:n.257_261del
NM_000543.5:c.132_136del MANE Select	NP_000534.3:p.Leu45AlafsTer5
NM_001007593.3:c.132_136del	NP_001007594.2:p.Leu45AlafsTer5
NM_001318087.2:c.132_136del	NP_001305016.1:p.Leu45AlafsTer5
NM_001318088.2:c.-830_-826del	NP_001305017.1:n.-830_-826del
NM_001365135.2:c.132_136del	NP_001352064.1:p.Leu45AlafsTer5
NR_027400.3:n.257_261del
NR_134502.2:n.257_261del