Canonical Allele Identifier: CA472909374

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2013337
• ClinVar RCV Id: RCV002834599
• gnomAD v4: 11-6390700-CCTGGT-C
• MyVariant Identifiers: chr11:g.6411931_6411935delCTGGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390701_6390705del , CM000673.2:g.6390701_6390705del	GRCh38
NC_000011.9:g.6411931_6411935del , CM000673.1:g.6411931_6411935del	GRCh37
NC_000011.8:g.6368507_6368511del	NCBI36
NG_011780.1:g.5277_5281del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.103_107del MANE Select	ENSP00000340409.4:p.Leu35AlafsTer15
ENST00000342245.8:c.103_107del	ENSP00000340409.4:p.Leu35AlafsTer15
ENST00000527275.5:c.103_107del	ENSP00000435350.1:p.Leu35AlafsTer15
ENST00000530395.1:c.-96+62_-96+66del	ENSP00000431479.1:n.-96+62_-96+66del
ENST00000531303.5:c.103_107del	ENSP00000432625.1:p.Leu35AlafsTer15
ENST00000533123.5:c.103_107del	ENSP00000435950.1:p.Leu35AlafsTer15
ENST00000533196.1:n.262_266del
ENST00000534405.5:c.103_107del	ENSP00000434353.1:p.Leu35AlafsTer15
NM_000543.4:c.103_107del	NP_000534.3:p.Leu35AlafsTer15
NM_001007593.2:c.103_107del	NP_001007594.2:p.Leu35AlafsTer15
XM_005253075.3:c.103_107del	XP_005253132.1:p.Leu35AlafsTer15
XM_011520303.1:c.103_107del	XP_011518605.1:p.Leu35AlafsTer15
XM_011520304.1:c.103_107del	XP_011518606.1:p.Leu35AlafsTer15
XR_930886.1:n.401_405del
NM_001318087.1:c.103_107del	NP_001305016.1:p.Leu35AlafsTer15
NM_001318088.1:c.-859_-855del	NP_001305017.1:n.-859_-855del
NM_001365135.1:c.103_107del	NP_001352064.1:p.Leu35AlafsTer15
NR_027400.2:n.288_292del
NR_134502.1:n.288_292del
XM_011520304.2:c.103_107del	XP_011518606.1:p.Leu35AlafsTer15
XR_001747940.2:n.228_232del
XR_002957158.1:n.228_232del
NM_000543.5:c.103_107del MANE Select	NP_000534.3:p.Leu35AlafsTer15
NM_001007593.3:c.103_107del	NP_001007594.2:p.Leu35AlafsTer15
NM_001318087.2:c.103_107del	NP_001305016.1:p.Leu35AlafsTer15
NM_001318088.2:c.-859_-855del	NP_001305017.1:n.-859_-855del
NM_001365135.2:c.103_107del	NP_001352064.1:p.Leu35AlafsTer15
NR_027400.3:n.228_232del
NR_134502.2:n.228_232del