Canonical Allele Identifier: CA934779446

Gene: SMPD1

Linked Data

• dbSNP Id: rs775568984
• gnomAD v3: 11-6390705-T-TGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC
• gnomAD v4: 11-6390705-T-TGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390706_6390707insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG , CM000673.2:g.6390706_6390707insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	GRCh38
NC_000011.9:g.6411936_6411937insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG , CM000673.1:g.6411936_6411937insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	GRCh37
NC_000011.8:g.6368512_6368513insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NCBI36
NG_011780.1:g.5282_5283insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG MANE Select	ENSP00000340409.4:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000342245.8:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000340409.4:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000527275.5:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000435350.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000530395.1:c.-96+67_-96+68insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000431479.1:n.-96+67_-96+68insGCGCTGGCGCTGGCGCTGGCGCTGG...
ENST00000531303.5:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000432625.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533123.5:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000435950.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533196.1:n.267_268insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
ENST00000534405.5:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	ENSP00000434353.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAla...
NM_000543.4:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_000534.3:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeuAla...
NM_001007593.2:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001007594.2:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_005253075.3:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	XP_005253132.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520303.1:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	XP_011518605.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520304.1:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	XP_011518606.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_930886.1:n.406_407insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
NM_001318087.1:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001305016.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.1:c.-854_-853insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001305017.1:n.-854_-853insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC...
NM_001365135.1:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001352064.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.2:n.293_294insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
NR_134502.1:n.293_294insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
XM_011520304.2:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	XP_011518606.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_001747940.2:n.233_234insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
XR_002957158.1:n.233_234insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
NM_000543.5:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG MANE Select	NP_000534.3:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeuAla...
NM_001007593.3:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001007594.2:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318087.2:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001305016.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.2:c.-854_-853insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001305017.1:n.-854_-853insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC...
NM_001365135.2:c.108_109insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG	NP_001352064.1:p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.3:n.233_234insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG
NR_134502.2:n.233_234insGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCG