Canonical Allele Identifier: CA2790309816

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394290_6394291insC , CM000673.2:g.6394290_6394291insC	GRCh38
NC_000011.9:g.6415520_6415521insC , CM000673.1:g.6415520_6415521insC	GRCh37
NC_000011.8:g.6372096_6372097insC	NCBI36
NG_011780.1:g.8866_8867insC
NG_029615.1:g.30124_30125insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1579_1580insC MANE Select	ENSP00000340409.4:p.Asn527ThrfsTer?
ENST00000342245.8:c.1579_1580insC	ENSP00000340409.4:p.Asn527ThrfsTer?
ENST00000526280.1:c.636_637insC
ENST00000527275.5:c.1576_1577insC	ENSP00000435350.1:p.Asn526ThrfsTer?
ENST00000531303.5:c.*430_*431insC	ENSP00000432625.1:n.*430_*431insC
ENST00000531336.1:n.567_568insC
ENST00000533123.5:c.*306_*307insC	ENSP00000435950.1:n.*306_*307insC
ENST00000534405.5:c.*410_*411insC	ENSP00000434353.1:n.*410_*411insC
NM_000543.4:c.1579_1580insC	NP_000534.3:p.Asn527ThrfsTer?
NM_001007593.2:c.1576_1577insC	NP_001007594.2:p.Asn526ThrfsTer?
XM_005253075.3:c.*72_*73insC	XP_005253132.1:n.*72_*73insC
XM_011520303.1:c.1447_1448insC	XP_011518605.1:p.Asn483ThrfsTer?
XM_011520304.1:c.*72_*73insC	XP_011518606.1:n.*72_*73insC
NM_001318087.1:c.*72_*73insC	NP_001305016.1:n.*72_*73insC
NM_001318088.1:c.658_659insC	NP_001305017.1:p.Asn220ThrfsTer?
NM_001365135.1:c.1447_1448insC	NP_001352064.1:p.Asn483ThrfsTer?
NR_027400.2:n.1592_1593insC
NR_134502.1:n.1131_1132insC
XM_011520304.2:c.*72_*73insC	XP_011518606.1:n.*72_*73insC
XR_001747940.2:n.1764_1765insC
XR_002957158.1:n.1946_1947insC
NM_000543.5:c.1579_1580insC MANE Select	NP_000534.3:p.Asn527ThrfsTer?
NM_001007593.3:c.1576_1577insC	NP_001007594.2:p.Asn526ThrfsTer?
NM_001318087.2:c.*72_*73insC	NP_001305016.1:n.*72_*73insC
NM_001318088.2:c.658_659insC	NP_001305017.1:p.Asn220ThrfsTer?
NM_001365135.2:c.1447_1448insC	NP_001352064.1:p.Asn483ThrfsTer?
NR_027400.3:n.1532_1533insC
NR_134502.2:n.1071_1072insC