Canonical Allele Identifier: CA2590997929

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6390746-T-TGGCG
• gnomAD v4: 11-6390746-T-TGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390746_6390747insGGCG , CM000673.2:g.6390746_6390747insGGCG	GRCh38
NC_000011.9:g.6411976_6411977insGGCG , CM000673.1:g.6411976_6411977insGGCG	GRCh37
NC_000011.8:g.6368552_6368553insGGCG	NCBI36
NG_011780.1:g.5322_5323insGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.148_149insGGCG MANE Select	ENSP00000340409.4:p.Ser50TrpfsTer3
ENST00000342245.8:c.148_149insGGCG	ENSP00000340409.4:p.Ser50TrpfsTer3
ENST00000527275.5:c.148_149insGGCG	ENSP00000435350.1:p.Ser50TrpfsTer3
ENST00000530395.1:c.-96+107_-96+108insGGCG	ENSP00000431479.1:n.-96+107_-96+108insGGCG
ENST00000531303.5:c.148_149insGGCG	ENSP00000432625.1:p.Ser50TrpfsTer3
ENST00000533123.5:c.148_149insGGCG	ENSP00000435950.1:p.Ser50TrpfsTer3
ENST00000533196.1:n.307_308insGGCG
ENST00000534405.5:c.148_149insGGCG	ENSP00000434353.1:p.Ser50TrpfsTer3
NM_000543.4:c.148_149insGGCG	NP_000534.3:p.Ser50TrpfsTer3
NM_001007593.2:c.148_149insGGCG	NP_001007594.2:p.Ser50TrpfsTer3
XM_005253075.3:c.148_149insGGCG	XP_005253132.1:p.Ser50TrpfsTer3
XM_011520303.1:c.148_149insGGCG	XP_011518605.1:p.Ser50TrpfsTer3
XM_011520304.1:c.148_149insGGCG	XP_011518606.1:p.Ser50TrpfsTer3
XR_930886.1:n.446_447insGGCG
NM_001318087.1:c.148_149insGGCG	NP_001305016.1:p.Ser50TrpfsTer3
NM_001318088.1:c.-814_-813insGGCG	NP_001305017.1:n.-814_-813insGGCG
NM_001365135.1:c.148_149insGGCG	NP_001352064.1:p.Ser50TrpfsTer3
NR_027400.2:n.333_334insGGCG
NR_134502.1:n.333_334insGGCG
XM_011520304.2:c.148_149insGGCG	XP_011518606.1:p.Ser50TrpfsTer3
XR_001747940.2:n.273_274insGGCG
XR_002957158.1:n.273_274insGGCG
NM_000543.5:c.148_149insGGCG MANE Select	NP_000534.3:p.Ser50TrpfsTer3
NM_001007593.3:c.148_149insGGCG	NP_001007594.2:p.Ser50TrpfsTer3
NM_001318087.2:c.148_149insGGCG	NP_001305016.1:p.Ser50TrpfsTer3
NM_001318088.2:c.-814_-813insGGCG	NP_001305017.1:n.-814_-813insGGCG
NM_001365135.2:c.148_149insGGCG	NP_001352064.1:p.Ser50TrpfsTer3
NR_027400.3:n.273_274insGGCG
NR_134502.2:n.273_274insGGCG