Canonical Allele Identifier: CA597263917

Gene: SMPD1

Linked Data

• dbSNP Id: rs1383184342
• gnomAD v2: 11-6413758-TGCTC-T
• gnomAD v3: 11-6392528-TGCTC-T
• gnomAD v4: 11-6392528-TGCTC-T
• MyVariant Identifiers: chr11:g.6413759_6413762del (hg19) ; chr11:g.6392529_6392532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392529_6392532del , CM000673.2:g.6392529_6392532del	GRCh38
NC_000011.9:g.6413759_6413762del , CM000673.1:g.6413759_6413762del	GRCh37
NC_000011.8:g.6370335_6370338del	NCBI36
NG_011780.1:g.7105_7108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+373_1091+376del MANE Select	ENSP00000340409.4:n.1091+373_1091+376del
ENST00000342245.8:c.1091+373_1091+376del	ENSP00000340409.4:n.1091+373_1091+376del
ENST00000526280.1:c.320+333_320+336del
ENST00000527275.5:c.1088+373_1088+376del	ENSP00000435350.1:n.1088+373_1088+376del
ENST00000531303.5:c.439-687_439-684del	ENSP00000432625.1:n.439-687_439-684del
ENST00000533123.5:c.1091+373_1091+376del	ENSP00000435950.1:n.1091+373_1091+376del
ENST00000534405.5:c.1131+333_1131+336del	ENSP00000434353.1:n.1131+333_1131+336del
NM_000543.4:c.1091+373_1091+376del	NP_000534.3:n.1091+373_1091+376del
NM_001007593.2:c.1088+373_1088+376del	NP_001007594.2:n.1088+373_1088+376del
XM_005253075.3:c.1091+373_1091+376del	XP_005253132.1:n.1091+373_1091+376del
XM_011520303.1:c.1131+333_1131+336del	XP_011518605.1:n.1131+333_1131+336del
XM_011520304.1:c.1131+333_1131+336del	XP_011518606.1:n.1131+333_1131+336del
XR_930886.1:n.1429+333_1429+336del
NM_001318087.1:c.1091+373_1091+376del	NP_001305016.1:n.1091+373_1091+376del
NM_001318088.1:c.170+333_170+336del	NP_001305017.1:n.170+333_170+336del
NM_001365135.1:c.1131+333_1131+336del	NP_001352064.1:n.1131+333_1131+336del
NR_027400.2:n.1276+373_1276+376del
NR_134502.1:n.624-687_624-684del
XM_011520304.2:c.1131+333_1131+336del	XP_011518606.1:n.1131+333_1131+336del
XR_001747940.2:n.1256+333_1256+336del
XR_002957158.1:n.1256+333_1256+336del
NM_000543.5:c.1091+373_1091+376del MANE Select	NP_000534.3:n.1091+373_1091+376del
NM_001007593.3:c.1088+373_1088+376del	NP_001007594.2:n.1088+373_1088+376del
NM_001318087.2:c.1091+373_1091+376del	NP_001305016.1:n.1091+373_1091+376del
NM_001318088.2:c.170+333_170+336del	NP_001305017.1:n.170+333_170+336del
NM_001365135.2:c.1131+333_1131+336del	NP_001352064.1:n.1131+333_1131+336del
NR_027400.3:n.1216+373_1216+376del
NR_134502.2:n.564-687_564-684del