Canonical Allele Identifier: CA645591970

Gene: SMPD1

Linked Data

• dbSNP Id: rs1420805120
• COSMIC: COSM4616060 ; COSM4616061
• MyVariant Identifiers: chr11:g.6411930_6411941del (hg19) ; chr11:g.6390700_6390711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390700_6390711del , CM000673.2:g.6390700_6390711del	GRCh38
NC_000011.9:g.6411930_6411941del , CM000673.1:g.6411930_6411941del	GRCh37
NC_000011.8:g.6368506_6368517del	NCBI36
NG_011780.1:g.5276_5287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.102_113del MANE Select	ENSP00000340409.4:p.Leu35_Ala38del
ENST00000342245.8:c.102_113del	ENSP00000340409.4:p.Leu35_Ala38del
ENST00000527275.5:c.102_113del	ENSP00000435350.1:p.Leu35_Ala38del
ENST00000530395.1:c.-96+61_-96+72del	ENSP00000431479.1:n.-96+61_-96+72del
ENST00000531303.5:c.102_113del	ENSP00000432625.1:p.Leu35_Ala38del
ENST00000533123.5:c.102_113del	ENSP00000435950.1:p.Leu35_Ala38del
ENST00000533196.1:n.261_272del
ENST00000534405.5:c.102_113del	ENSP00000434353.1:p.Leu35_Ala38del
NM_000543.4:c.102_113del	NP_000534.3:p.Leu35_Ala38del
NM_001007593.2:c.102_113del	NP_001007594.2:p.Leu35_Ala38del
XM_005253075.3:c.102_113del	XP_005253132.1:p.Leu35_Ala38del
XM_011520303.1:c.102_113del	XP_011518605.1:p.Leu35_Ala38del
XM_011520304.1:c.102_113del	XP_011518606.1:p.Leu35_Ala38del
XR_930886.1:n.400_411del
NM_001318087.1:c.102_113del	NP_001305016.1:p.Leu35_Ala38del
NM_001318088.1:c.-860_-849del	NP_001305017.1:n.-860_-849del
NM_001365135.1:c.102_113del	NP_001352064.1:p.Leu35_Ala38del
NR_027400.2:n.287_298del
NR_134502.1:n.287_298del
XM_011520304.2:c.102_113del	XP_011518606.1:p.Leu35_Ala38del
XR_001747940.2:n.227_238del
XR_002957158.1:n.227_238del
NM_000543.5:c.102_113del MANE Select	NP_000534.3:p.Leu35_Ala38del
NM_001007593.3:c.102_113del	NP_001007594.2:p.Leu35_Ala38del
NM_001318087.2:c.102_113del	NP_001305016.1:p.Leu35_Ala38del
NM_001318088.2:c.-860_-849del	NP_001305017.1:n.-860_-849del
NM_001365135.2:c.102_113del	NP_001352064.1:p.Leu35_Ala38del
NR_027400.3:n.227_238del
NR_134502.2:n.227_238del