Canonical Allele Identifier: CA2612222576

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392332-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392332_6392333insG , CM000673.2:g.6392332_6392333insG	GRCh38
NC_000011.9:g.6413562_6413563insG , CM000673.1:g.6413562_6413563insG	GRCh37
NC_000011.8:g.6370138_6370139insG	NCBI36
NG_011780.1:g.6908_6909insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+176_1091+177insG MANE Select	ENSP00000340409.4:n.1091+176_1091+177insG
ENST00000342245.8:c.1091+176_1091+177insG	ENSP00000340409.4:n.1091+176_1091+177insG
ENST00000526280.1:c.320+136_320+137insG
ENST00000527275.5:c.1088+176_1088+177insG	ENSP00000435350.1:n.1088+176_1088+177insG
ENST00000531303.5:c.438+829_438+830insG	ENSP00000432625.1:n.438+829_438+830insG
ENST00000533123.5:c.1091+176_1091+177insG	ENSP00000435950.1:n.1091+176_1091+177insG
ENST00000534405.5:c.1131+136_1131+137insG	ENSP00000434353.1:n.1131+136_1131+137insG
NM_000543.4:c.1091+176_1091+177insG	NP_000534.3:n.1091+176_1091+177insG
NM_001007593.2:c.1088+176_1088+177insG	NP_001007594.2:n.1088+176_1088+177insG
XM_005253075.3:c.1091+176_1091+177insG	XP_005253132.1:n.1091+176_1091+177insG
XM_011520303.1:c.1131+136_1131+137insG	XP_011518605.1:n.1131+136_1131+137insG
XM_011520304.1:c.1131+136_1131+137insG	XP_011518606.1:n.1131+136_1131+137insG
XR_930886.1:n.1429+136_1429+137insG
NM_001318087.1:c.1091+176_1091+177insG	NP_001305016.1:n.1091+176_1091+177insG
NM_001318088.1:c.170+136_170+137insG	NP_001305017.1:n.170+136_170+137insG
NM_001365135.1:c.1131+136_1131+137insG	NP_001352064.1:n.1131+136_1131+137insG
NR_027400.2:n.1276+176_1276+177insG
NR_134502.1:n.623+829_623+830insG
XM_011520304.2:c.1131+136_1131+137insG	XP_011518606.1:n.1131+136_1131+137insG
XR_001747940.2:n.1256+136_1256+137insG
XR_002957158.1:n.1256+136_1256+137insG
NM_000543.5:c.1091+176_1091+177insG MANE Select	NP_000534.3:n.1091+176_1091+177insG
NM_001007593.3:c.1088+176_1088+177insG	NP_001007594.2:n.1088+176_1088+177insG
NM_001318087.2:c.1091+176_1091+177insG	NP_001305016.1:n.1091+176_1091+177insG
NM_001318088.2:c.170+136_170+137insG	NP_001305017.1:n.170+136_170+137insG
NM_001365135.2:c.1131+136_1131+137insG	NP_001352064.1:n.1131+136_1131+137insG
NR_027400.3:n.1216+176_1216+177insG
NR_134502.2:n.563+829_563+830insG