Canonical Allele Identifier: CA934779495

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847863977

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390713_6390715del , CM000673.2:g.6390713_6390715del	GRCh38
NC_000011.9:g.6411943_6411945del , CM000673.1:g.6411943_6411945del	GRCh37
NC_000011.8:g.6368519_6368521del	NCBI36
NG_011780.1:g.5289_5291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.115_117del MANE Select	ENSP00000340409.4:p.Leu39del
ENST00000342245.8:c.115_117del	ENSP00000340409.4:p.Leu39del
ENST00000527275.5:c.115_117del	ENSP00000435350.1:p.Leu39del
ENST00000530395.1:c.-96+74_-96+76del	ENSP00000431479.1:n.-96+74_-96+76del
ENST00000531303.5:c.115_117del	ENSP00000432625.1:p.Leu39del
ENST00000533123.5:c.115_117del	ENSP00000435950.1:p.Leu39del
ENST00000533196.1:n.274_276del
ENST00000534405.5:c.115_117del	ENSP00000434353.1:p.Leu39del
NM_000543.4:c.115_117del	NP_000534.3:p.Leu39del
NM_001007593.2:c.115_117del	NP_001007594.2:p.Leu39del
XM_005253075.3:c.115_117del	XP_005253132.1:p.Leu39del
XM_011520303.1:c.115_117del	XP_011518605.1:p.Leu39del
XM_011520304.1:c.115_117del	XP_011518606.1:p.Leu39del
XR_930886.1:n.413_415del
NM_001318087.1:c.115_117del	NP_001305016.1:p.Leu39del
NM_001318088.1:c.-847_-845del	NP_001305017.1:n.-847_-845del
NM_001365135.1:c.115_117del	NP_001352064.1:p.Leu39del
NR_027400.2:n.300_302del
NR_134502.1:n.300_302del
XM_011520304.2:c.115_117del	XP_011518606.1:p.Leu39del
XR_001747940.2:n.240_242del
XR_002957158.1:n.240_242del
NM_000543.5:c.115_117del MANE Select	NP_000534.3:p.Leu39del
NM_001007593.3:c.115_117del	NP_001007594.2:p.Leu39del
NM_001318087.2:c.115_117del	NP_001305016.1:p.Leu39del
NM_001318088.2:c.-847_-845del	NP_001305017.1:n.-847_-845del
NM_001365135.2:c.115_117del	NP_001352064.1:p.Leu39del
NR_027400.3:n.240_242del
NR_134502.2:n.240_242del