Canonical Allele Identifier: CA2612222225

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391640-G-GCCCCCCGCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391646_6391647insGCCCCCCCCCCCCC , CM000673.2:g.6391646_6391647insGCCCCCCCCCCCCC	GRCh38
NC_000011.9:g.6412876_6412877insGCCCCCCCCCCCCC , CM000673.1:g.6412876_6412877insGCCCCCCCCCCCCC	GRCh37
NC_000011.8:g.6369452_6369453insGCCCCCCCCCCCCC	NCBI36
NG_011780.1:g.6222_6223insGCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.581_582insGCCCCCCCCCCCCC MANE Select	ENSP00000340409.4:p.Ala195ProfsTer?
ENST00000342245.8:c.581_582insGCCCCCCCCCCCCC	ENSP00000340409.4:p.Ala195ProfsTer?
ENST00000527275.5:c.578_579insGCCCCCCCCCCCCC	ENSP00000435350.1:p.Ala194ProfsTer?
ENST00000530395.1:c.-95-144_-95-143insGCCCCCCCCCCCCC	ENSP00000431479.1:n.-95-144_-95-143insGCC...
ENST00000531303.5:c.438+143_438+144insGCCCCCCCCCCCCC	ENSP00000432625.1:n.438+143_438+144insGCC...
ENST00000533123.5:c.581_582insGCCCCCCCCCCCCC	ENSP00000435950.1:p.Ala195ProfsTer?
ENST00000533196.1:n.375-360_375-359insGCCCCCCCCCCCCC
ENST00000534405.5:c.581_582insGCCCCCCCCCCCCC	ENSP00000434353.1:p.Ala195ProfsTer?
NM_000543.4:c.581_582insGCCCCCCCCCCCCC	NP_000534.3:p.Ala195ProfsTer?
NM_001007593.2:c.578_579insGCCCCCCCCCCCCC	NP_001007594.2:p.Ala194ProfsTer?
XM_005253075.3:c.581_582insGCCCCCCCCCCCCC	XP_005253132.1:p.Ala195ProfsTer?
XM_011520303.1:c.581_582insGCCCCCCCCCCCCC	XP_011518605.1:p.Ala195ProfsTer?
XM_011520304.1:c.581_582insGCCCCCCCCCCCCC	XP_011518606.1:p.Ala195ProfsTer?
XR_930886.1:n.879_880insGCCCCCCCCCCCCC
NM_001318087.1:c.581_582insGCCCCCCCCCCCCC	NP_001305016.1:p.Ala195ProfsTer?
NM_001318088.1:c.-381_-380insGCCCCCCCCCCCCC	NP_001305017.1:n.-381_-380insGCCCCCCCCCCC...
NM_001365135.1:c.581_582insGCCCCCCCCCCCCC	NP_001352064.1:p.Ala195ProfsTer?
NR_027400.2:n.766_767insGCCCCCCCCCCCCC
NR_134502.1:n.623+143_623+144insGCCCCCCCCCCCCC
XM_011520304.2:c.581_582insGCCCCCCCCCCCCC	XP_011518606.1:p.Ala195ProfsTer?
XR_001747940.2:n.706_707insGCCCCCCCCCCCCC
XR_002957158.1:n.706_707insGCCCCCCCCCCCCC
NM_000543.5:c.581_582insGCCCCCCCCCCCCC MANE Select	NP_000534.3:p.Ala195ProfsTer?
NM_001007593.3:c.578_579insGCCCCCCCCCCCCC	NP_001007594.2:p.Ala194ProfsTer?
NM_001318087.2:c.581_582insGCCCCCCCCCCCCC	NP_001305016.1:p.Ala195ProfsTer?
NM_001318088.2:c.-381_-380insGCCCCCCCCCCCCC	NP_001305017.1:n.-381_-380insGCCCCCCCCCCC...
NM_001365135.2:c.581_582insGCCCCCCCCCCCCC	NP_001352064.1:p.Ala195ProfsTer?
NR_027400.3:n.706_707insGCCCCCCCCCCCCC
NR_134502.2:n.563+143_563+144insGCCCCCCCCCCCCC