Canonical Allele Identifier: CA2612222227

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391641-C-CCCCCCCCCCCCCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391646_6391647insCCCCCCCCCCGGCCCCC , CM000673.2:g.6391646_6391647insCCCCCCCCCCGGCCCCC	GRCh38
NC_000011.9:g.6412876_6412877insCCCCCCCCCCGGCCCCC , CM000673.1:g.6412876_6412877insCCCCCCCCCCGGCCCCC	GRCh37
NC_000011.8:g.6369452_6369453insCCCCCCCCCCGGCCCCC	NCBI36
NG_011780.1:g.6222_6223insCCCCCCCCCCGGCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.581_582insCCCCCCCCCCGGCCCCC MANE Select	ENSP00000340409.4:p.Ala195ProfsTer?
ENST00000342245.8:c.581_582insCCCCCCCCCCGGCCCCC	ENSP00000340409.4:p.Ala195ProfsTer?
ENST00000527275.5:c.578_579insCCCCCCCCCCGGCCCCC	ENSP00000435350.1:p.Ala194ProfsTer?
ENST00000530395.1:c.-95-144_-95-143insCCCCCCCCCCGGCCCCC	ENSP00000431479.1:n.-95-144_-95-143insCCC...
ENST00000531303.5:c.438+143_438+144insCCCCCCCCCCGGCCCCC	ENSP00000432625.1:n.438+143_438+144insCCC...
ENST00000533123.5:c.581_582insCCCCCCCCCCGGCCCCC	ENSP00000435950.1:p.Ala195ProfsTer?
ENST00000533196.1:n.375-360_375-359insCCCCCCCCCCGGCCCCC
ENST00000534405.5:c.581_582insCCCCCCCCCCGGCCCCC	ENSP00000434353.1:p.Ala195ProfsTer?
NM_000543.4:c.581_582insCCCCCCCCCCGGCCCCC	NP_000534.3:p.Ala195ProfsTer?
NM_001007593.2:c.578_579insCCCCCCCCCCGGCCCCC	NP_001007594.2:p.Ala194ProfsTer?
XM_005253075.3:c.581_582insCCCCCCCCCCGGCCCCC	XP_005253132.1:p.Ala195ProfsTer?
XM_011520303.1:c.581_582insCCCCCCCCCCGGCCCCC	XP_011518605.1:p.Ala195ProfsTer?
XM_011520304.1:c.581_582insCCCCCCCCCCGGCCCCC	XP_011518606.1:p.Ala195ProfsTer?
XR_930886.1:n.879_880insCCCCCCCCCCGGCCCCC
NM_001318087.1:c.581_582insCCCCCCCCCCGGCCCCC	NP_001305016.1:p.Ala195ProfsTer?
NM_001318088.1:c.-381_-380insCCCCCCCCCCGGCCCCC	NP_001305017.1:n.-381_-380insCCCCCCCCCCGG...
NM_001365135.1:c.581_582insCCCCCCCCCCGGCCCCC	NP_001352064.1:p.Ala195ProfsTer?
NR_027400.2:n.766_767insCCCCCCCCCCGGCCCCC
NR_134502.1:n.623+143_623+144insCCCCCCCCCCGGCCCCC
XM_011520304.2:c.581_582insCCCCCCCCCCGGCCCCC	XP_011518606.1:p.Ala195ProfsTer?
XR_001747940.2:n.706_707insCCCCCCCCCCGGCCCCC
XR_002957158.1:n.706_707insCCCCCCCCCCGGCCCCC
NM_000543.5:c.581_582insCCCCCCCCCCGGCCCCC MANE Select	NP_000534.3:p.Ala195ProfsTer?
NM_001007593.3:c.578_579insCCCCCCCCCCGGCCCCC	NP_001007594.2:p.Ala194ProfsTer?
NM_001318087.2:c.581_582insCCCCCCCCCCGGCCCCC	NP_001305016.1:p.Ala195ProfsTer?
NM_001318088.2:c.-381_-380insCCCCCCCCCCGGCCCCC	NP_001305017.1:n.-381_-380insCCCCCCCCCCGG...
NM_001365135.2:c.581_582insCCCCCCCCCCGGCCCCC	NP_001352064.1:p.Ala195ProfsTer?
NR_027400.3:n.706_707insCCCCCCCCCCGGCCCCC
NR_134502.2:n.563+143_563+144insCCCCCCCCCCGGCCCCC