Canonical Allele Identifier: CA2612222564

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392330-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392330_6392331insGC , CM000673.2:g.6392330_6392331insGC	GRCh38
NC_000011.9:g.6413560_6413561insGC , CM000673.1:g.6413560_6413561insGC	GRCh37
NC_000011.8:g.6370136_6370137insGC	NCBI36
NG_011780.1:g.6906_6907insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+174_1091+175insGC MANE Select	ENSP00000340409.4:n.1091+174_1091+175insGC
ENST00000342245.8:c.1091+174_1091+175insGC	ENSP00000340409.4:n.1091+174_1091+175insGC
ENST00000526280.1:c.320+134_320+135insGC
ENST00000527275.5:c.1088+174_1088+175insGC	ENSP00000435350.1:n.1088+174_1088+175insGC
ENST00000531303.5:c.438+827_438+828insGC	ENSP00000432625.1:n.438+827_438+828insGC
ENST00000533123.5:c.1091+174_1091+175insGC	ENSP00000435950.1:n.1091+174_1091+175insGC
ENST00000534405.5:c.1131+134_1131+135insGC	ENSP00000434353.1:n.1131+134_1131+135insGC
NM_000543.4:c.1091+174_1091+175insGC	NP_000534.3:n.1091+174_1091+175insGC
NM_001007593.2:c.1088+174_1088+175insGC	NP_001007594.2:n.1088+174_1088+175insGC
XM_005253075.3:c.1091+174_1091+175insGC	XP_005253132.1:n.1091+174_1091+175insGC
XM_011520303.1:c.1131+134_1131+135insGC	XP_011518605.1:n.1131+134_1131+135insGC
XM_011520304.1:c.1131+134_1131+135insGC	XP_011518606.1:n.1131+134_1131+135insGC
XR_930886.1:n.1429+134_1429+135insGC
NM_001318087.1:c.1091+174_1091+175insGC	NP_001305016.1:n.1091+174_1091+175insGC
NM_001318088.1:c.170+134_170+135insGC	NP_001305017.1:n.170+134_170+135insGC
NM_001365135.1:c.1131+134_1131+135insGC	NP_001352064.1:n.1131+134_1131+135insGC
NR_027400.2:n.1276+174_1276+175insGC
NR_134502.1:n.623+827_623+828insGC
XM_011520304.2:c.1131+134_1131+135insGC	XP_011518606.1:n.1131+134_1131+135insGC
XR_001747940.2:n.1256+134_1256+135insGC
XR_002957158.1:n.1256+134_1256+135insGC
NM_000543.5:c.1091+174_1091+175insGC MANE Select	NP_000534.3:n.1091+174_1091+175insGC
NM_001007593.3:c.1088+174_1088+175insGC	NP_001007594.2:n.1088+174_1088+175insGC
NM_001318087.2:c.1091+174_1091+175insGC	NP_001305016.1:n.1091+174_1091+175insGC
NM_001318088.2:c.170+134_170+135insGC	NP_001305017.1:n.170+134_170+135insGC
NM_001365135.2:c.1131+134_1131+135insGC	NP_001352064.1:n.1131+134_1131+135insGC
NR_027400.3:n.1216+174_1216+175insGC
NR_134502.2:n.563+827_563+828insGC