Canonical Allele Identifier: CA934767981

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847968839
• gnomAD v3: 11-6392382-ATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC-A
• gnomAD v4: 11-6392382-ATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392398_6392547del , CM000673.2:g.6392398_6392547del	GRCh38
NC_000011.9:g.6413628_6413777del , CM000673.1:g.6413628_6413777del	GRCh37
NC_000011.8:g.6370204_6370353del	NCBI36
NG_011780.1:g.6974_7123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+242_1091+391del MANE Select	ENSP00000340409.4:n.1091+242_1091+391del
ENST00000342245.8:c.1091+242_1091+391del	ENSP00000340409.4:n.1091+242_1091+391del
ENST00000526280.1:c.320+202_320+351del
ENST00000527275.5:c.1088+242_1088+391del	ENSP00000435350.1:n.1088+242_1088+391del
ENST00000531303.5:c.439-818_439-669del	ENSP00000432625.1:n.439-818_439-669del
ENST00000533123.5:c.1091+242_1091+391del	ENSP00000435950.1:n.1091+242_1091+391del
ENST00000534405.5:c.1131+202_1131+351del	ENSP00000434353.1:n.1131+202_1131+351del
NM_000543.4:c.1091+242_1091+391del	NP_000534.3:n.1091+242_1091+391del
NM_001007593.2:c.1088+242_1088+391del	NP_001007594.2:n.1088+242_1088+391del
XM_005253075.3:c.1091+242_1091+391del	XP_005253132.1:n.1091+242_1091+391del
XM_011520303.1:c.1131+202_1131+351del	XP_011518605.1:n.1131+202_1131+351del
XM_011520304.1:c.1131+202_1131+351del	XP_011518606.1:n.1131+202_1131+351del
XR_930886.1:n.1429+202_1429+351del
NM_001318087.1:c.1091+242_1091+391del	NP_001305016.1:n.1091+242_1091+391del
NM_001318088.1:c.170+202_170+351del	NP_001305017.1:n.170+202_170+351del
NM_001365135.1:c.1131+202_1131+351del	NP_001352064.1:n.1131+202_1131+351del
NR_027400.2:n.1276+242_1276+391del
NR_134502.1:n.624-818_624-669del
XM_011520304.2:c.1131+202_1131+351del	XP_011518606.1:n.1131+202_1131+351del
XR_001747940.2:n.1256+202_1256+351del
XR_002957158.1:n.1256+202_1256+351del
NM_000543.5:c.1091+242_1091+391del MANE Select	NP_000534.3:n.1091+242_1091+391del
NM_001007593.3:c.1088+242_1088+391del	NP_001007594.2:n.1088+242_1088+391del
NM_001318087.2:c.1091+242_1091+391del	NP_001305016.1:n.1091+242_1091+391del
NM_001318088.2:c.170+202_170+351del	NP_001305017.1:n.170+202_170+351del
NM_001365135.2:c.1131+202_1131+351del	NP_001352064.1:n.1131+202_1131+351del
NR_027400.3:n.1216+242_1216+391del
NR_134502.2:n.564-818_564-669del