Canonical Allele Identifier: CA2723269570

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134005843

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390731_6390735del , CM000673.2:g.6390731_6390735del	GRCh38
NC_000011.9:g.6411961_6411965del , CM000673.1:g.6411961_6411965del	GRCh37
NC_000011.8:g.6368537_6368541del	NCBI36
NG_011780.1:g.5307_5311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.133_137del MANE Select	ENSP00000340409.4:p.Leu45AlafsTer5
ENST00000342245.8:c.133_137del	ENSP00000340409.4:p.Leu45AlafsTer5
ENST00000527275.5:c.133_137del	ENSP00000435350.1:p.Leu45AlafsTer5
ENST00000530395.1:c.-96+92_-96+96del	ENSP00000431479.1:n.-96+92_-96+96del
ENST00000531303.5:c.133_137del	ENSP00000432625.1:p.Leu45AlafsTer5
ENST00000533123.5:c.133_137del	ENSP00000435950.1:p.Leu45AlafsTer5
ENST00000533196.1:n.292_296del
ENST00000534405.5:c.133_137del	ENSP00000434353.1:p.Leu45AlafsTer5
NM_000543.4:c.133_137del	NP_000534.3:p.Leu45AlafsTer5
NM_001007593.2:c.133_137del	NP_001007594.2:p.Leu45AlafsTer5
XM_005253075.3:c.133_137del	XP_005253132.1:p.Leu45AlafsTer5
XM_011520303.1:c.133_137del	XP_011518605.1:p.Leu45AlafsTer5
XM_011520304.1:c.133_137del	XP_011518606.1:p.Leu45AlafsTer5
XR_930886.1:n.431_435del
NM_001318087.1:c.133_137del	NP_001305016.1:p.Leu45AlafsTer5
NM_001318088.1:c.-829_-825del	NP_001305017.1:n.-829_-825del
NM_001365135.1:c.133_137del	NP_001352064.1:p.Leu45AlafsTer5
NR_027400.2:n.318_322del
NR_134502.1:n.318_322del
XM_011520304.2:c.133_137del	XP_011518606.1:p.Leu45AlafsTer5
XR_001747940.2:n.258_262del
XR_002957158.1:n.258_262del
NM_000543.5:c.133_137del MANE Select	NP_000534.3:p.Leu45AlafsTer5
NM_001007593.3:c.133_137del	NP_001007594.2:p.Leu45AlafsTer5
NM_001318087.2:c.133_137del	NP_001305016.1:p.Leu45AlafsTer5
NM_001318088.2:c.-829_-825del	NP_001305017.1:n.-829_-825del
NM_001365135.2:c.133_137del	NP_001352064.1:p.Leu45AlafsTer5
NR_027400.3:n.258_262del
NR_134502.2:n.258_262del