Canonical Allele Identifier: CA2740093605

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2943365
• ClinVar RCV Id: RCV003800483

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392076_6392077del , CM000673.2:g.6392076_6392077del	GRCh38
NC_000011.9:g.6413306_6413307del , CM000673.1:g.6413306_6413307del	GRCh37
NC_000011.8:g.6369882_6369883del	NCBI36
NG_011780.1:g.6652_6653del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1011_1012del MANE Select	ENSP00000340409.4:p.Asn337LysfsTer8
ENST00000342245.8:c.1011_1012del	ENSP00000340409.4:p.Asn337LysfsTer8
ENST00000526280.1:c.200_201del
ENST00000527275.5:c.1008_1009del	ENSP00000435350.1:p.Asn336LysfsTer8
ENST00000531303.5:c.438+573_438+574del	ENSP00000432625.1:n.438+573_438+574del
ENST00000533123.5:c.1011_1012del	ENSP00000435950.1:p.Asn337LysfsTer8
ENST00000534405.5:c.1011_1012del	ENSP00000434353.1:p.Asn337LysfsTer8
NM_000543.4:c.1011_1012del	NP_000534.3:p.Asn337LysfsTer8
NM_001007593.2:c.1008_1009del	NP_001007594.2:p.Asn336LysfsTer8
XM_005253075.3:c.1011_1012del	XP_005253132.1:p.Asn337LysfsTer8
XM_011520303.1:c.1011_1012del	XP_011518605.1:p.Asn337LysfsTer8
XM_011520304.1:c.1011_1012del	XP_011518606.1:p.Asn337LysfsTer8
XR_930886.1:n.1309_1310del
NM_001318087.1:c.1011_1012del	NP_001305016.1:p.Asn337LysfsTer8
NM_001318088.1:c.50_51del	NP_001305017.1:p.Thr17AsnfsTer?
NM_001365135.1:c.1011_1012del	NP_001352064.1:p.Asn337LysfsTer8
NR_027400.2:n.1196_1197del
NR_134502.1:n.623+573_623+574del
XM_011520304.2:c.1011_1012del	XP_011518606.1:p.Asn337LysfsTer8
XR_001747940.2:n.1136_1137del
XR_002957158.1:n.1136_1137del
NM_000543.5:c.1011_1012del MANE Select	NP_000534.3:p.Asn337LysfsTer8
NM_001007593.3:c.1008_1009del	NP_001007594.2:p.Asn336LysfsTer8
NM_001318087.2:c.1011_1012del	NP_001305016.1:p.Asn337LysfsTer8
NM_001318088.2:c.50_51del	NP_001305017.1:p.Thr17AsnfsTer?
NM_001365135.2:c.1011_1012del	NP_001352064.1:p.Asn337LysfsTer8
NR_027400.3:n.1136_1137del
NR_134502.2:n.563+573_563+574del