Canonical Allele Identifier: CA2612221028

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390746-T-TGGCGCTGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390746_6390747insGGCGCTGGCG , CM000673.2:g.6390746_6390747insGGCGCTGGCG	GRCh38
NC_000011.9:g.6411976_6411977insGGCGCTGGCG , CM000673.1:g.6411976_6411977insGGCGCTGGCG	GRCh37
NC_000011.8:g.6368552_6368553insGGCGCTGGCG	NCBI36
NG_011780.1:g.5322_5323insGGCGCTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.148_149insGGCGCTGGCG MANE Select	ENSP00000340409.4:p.Ser50TrpfsTer5
ENST00000342245.8:c.148_149insGGCGCTGGCG	ENSP00000340409.4:p.Ser50TrpfsTer5
ENST00000527275.5:c.148_149insGGCGCTGGCG	ENSP00000435350.1:p.Ser50TrpfsTer5
ENST00000530395.1:c.-96+107_-96+108insGGCGCTGGCG	ENSP00000431479.1:n.-96+107_-96+108insGGCGCTGGCG
ENST00000531303.5:c.148_149insGGCGCTGGCG	ENSP00000432625.1:p.Ser50TrpfsTer5
ENST00000533123.5:c.148_149insGGCGCTGGCG	ENSP00000435950.1:p.Ser50TrpfsTer5
ENST00000533196.1:n.307_308insGGCGCTGGCG
ENST00000534405.5:c.148_149insGGCGCTGGCG	ENSP00000434353.1:p.Ser50TrpfsTer5
NM_000543.4:c.148_149insGGCGCTGGCG	NP_000534.3:p.Ser50TrpfsTer5
NM_001007593.2:c.148_149insGGCGCTGGCG	NP_001007594.2:p.Ser50TrpfsTer5
XM_005253075.3:c.148_149insGGCGCTGGCG	XP_005253132.1:p.Ser50TrpfsTer5
XM_011520303.1:c.148_149insGGCGCTGGCG	XP_011518605.1:p.Ser50TrpfsTer5
XM_011520304.1:c.148_149insGGCGCTGGCG	XP_011518606.1:p.Ser50TrpfsTer5
XR_930886.1:n.446_447insGGCGCTGGCG
NM_001318087.1:c.148_149insGGCGCTGGCG	NP_001305016.1:p.Ser50TrpfsTer5
NM_001318088.1:c.-814_-813insGGCGCTGGCG	NP_001305017.1:n.-814_-813insGGCGCTGGCG
NM_001365135.1:c.148_149insGGCGCTGGCG	NP_001352064.1:p.Ser50TrpfsTer5
NR_027400.2:n.333_334insGGCGCTGGCG
NR_134502.1:n.333_334insGGCGCTGGCG
XM_011520304.2:c.148_149insGGCGCTGGCG	XP_011518606.1:p.Ser50TrpfsTer5
XR_001747940.2:n.273_274insGGCGCTGGCG
XR_002957158.1:n.273_274insGGCGCTGGCG
NM_000543.5:c.148_149insGGCGCTGGCG MANE Select	NP_000534.3:p.Ser50TrpfsTer5
NM_001007593.3:c.148_149insGGCGCTGGCG	NP_001007594.2:p.Ser50TrpfsTer5
NM_001318087.2:c.148_149insGGCGCTGGCG	NP_001305016.1:p.Ser50TrpfsTer5
NM_001318088.2:c.-814_-813insGGCGCTGGCG	NP_001305017.1:n.-814_-813insGGCGCTGGCG
NM_001365135.2:c.148_149insGGCGCTGGCG	NP_001352064.1:p.Ser50TrpfsTer5
NR_027400.3:n.273_274insGGCGCTGGCG
NR_134502.2:n.273_274insGGCGCTGGCG