Canonical Allele Identifier: CA2612222229

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391641-C-CCCCCCCCCCCCCCCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391646_6391647insCCCCCCCCCCCCGGCCCCC , CM000673.2:g.6391646_6391647insCCCCCCCCCCCCGGCCCCC	GRCh38
NC_000011.9:g.6412876_6412877insCCCCCCCCCCCCGGCCCCC , CM000673.1:g.6412876_6412877insCCCCCCCCCCCCGGCCCCC	GRCh37
NC_000011.8:g.6369452_6369453insCCCCCCCCCCCCGGCCCCC	NCBI36
NG_011780.1:g.6222_6223insCCCCCCCCCCCCGGCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.581_582insCCCCCCCCCCCCGGCCCCC MANE Select	ENSP00000340409.4:p.Ala195ProfsTer20
ENST00000342245.8:c.581_582insCCCCCCCCCCCCGGCCCCC	ENSP00000340409.4:p.Ala195ProfsTer20
ENST00000527275.5:c.578_579insCCCCCCCCCCCCGGCCCCC	ENSP00000435350.1:p.Ala194ProfsTer20
ENST00000530395.1:c.-95-144_-95-143insCCCCCCCCCCCCGGCCCCC	ENSP00000431479.1:n.-95-144_-95-143insCCC...
ENST00000531303.5:c.438+143_438+144insCCCCCCCCCCCCGGCCCCC	ENSP00000432625.1:n.438+143_438+144insCCC...
ENST00000533123.5:c.581_582insCCCCCCCCCCCCGGCCCCC	ENSP00000435950.1:p.Ala195ProfsTer20
ENST00000533196.1:n.375-360_375-359insCCCCCCCCCCCCGGCCCCC
ENST00000534405.5:c.581_582insCCCCCCCCCCCCGGCCCCC	ENSP00000434353.1:p.Ala195ProfsTer20
NM_000543.4:c.581_582insCCCCCCCCCCCCGGCCCCC	NP_000534.3:p.Ala195ProfsTer20
NM_001007593.2:c.578_579insCCCCCCCCCCCCGGCCCCC	NP_001007594.2:p.Ala194ProfsTer20
XM_005253075.3:c.581_582insCCCCCCCCCCCCGGCCCCC	XP_005253132.1:p.Ala195ProfsTer20
XM_011520303.1:c.581_582insCCCCCCCCCCCCGGCCCCC	XP_011518605.1:p.Ala195ProfsTer20
XM_011520304.1:c.581_582insCCCCCCCCCCCCGGCCCCC	XP_011518606.1:p.Ala195ProfsTer20
XR_930886.1:n.879_880insCCCCCCCCCCCCGGCCCCC
NM_001318087.1:c.581_582insCCCCCCCCCCCCGGCCCCC	NP_001305016.1:p.Ala195ProfsTer20
NM_001318088.1:c.-381_-380insCCCCCCCCCCCCGGCCCCC	NP_001305017.1:n.-381_-380insCCCCCCCCCCCC...
NM_001365135.1:c.581_582insCCCCCCCCCCCCGGCCCCC	NP_001352064.1:p.Ala195ProfsTer20
NR_027400.2:n.766_767insCCCCCCCCCCCCGGCCCCC
NR_134502.1:n.623+143_623+144insCCCCCCCCCCCCGGCCCCC
XM_011520304.2:c.581_582insCCCCCCCCCCCCGGCCCCC	XP_011518606.1:p.Ala195ProfsTer20
XR_001747940.2:n.706_707insCCCCCCCCCCCCGGCCCCC
XR_002957158.1:n.706_707insCCCCCCCCCCCCGGCCCCC
NM_000543.5:c.581_582insCCCCCCCCCCCCGGCCCCC MANE Select	NP_000534.3:p.Ala195ProfsTer20
NM_001007593.3:c.578_579insCCCCCCCCCCCCGGCCCCC	NP_001007594.2:p.Ala194ProfsTer20
NM_001318087.2:c.581_582insCCCCCCCCCCCCGGCCCCC	NP_001305016.1:p.Ala195ProfsTer20
NM_001318088.2:c.-381_-380insCCCCCCCCCCCCGGCCCCC	NP_001305017.1:n.-381_-380insCCCCCCCCCCCC...
NM_001365135.2:c.581_582insCCCCCCCCCCCCGGCCCCC	NP_001352064.1:p.Ala195ProfsTer20
NR_027400.3:n.706_707insCCCCCCCCCCCCGGCCCCC
NR_134502.2:n.563+143_563+144insCCCCCCCCCCCCGGCCCCC