Canonical Allele Identifier: CA597438129

Gene: SMPD1

Linked Data

• dbSNP Id: rs1458099873
• gnomAD v2: 11-6411950-T-TGGCGCC
• gnomAD v3: 11-6390720-T-TGGCGCC
• gnomAD v4: 11-6390720-T-TGGCGCC
• MyVariant Identifiers: chr11:g.6411950_6411951insGGCGCC (hg19) ; chr11:g.6390720_6390721insGGCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390725_6390726insCGGCGC , CM000673.2:g.6390725_6390726insCGGCGC	GRCh38
NC_000011.9:g.6411955_6411956insCGGCGC , CM000673.1:g.6411955_6411956insCGGCGC	GRCh37
NC_000011.8:g.6368531_6368532insCGGCGC	NCBI36
NG_011780.1:g.5301_5302insCGGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.127_128insCGGCGC MANE Select	ENSP00000340409.4:p.Ala42_Leu43insProAla
ENST00000342245.8:c.127_128insCGGCGC	ENSP00000340409.4:p.Ala42_Leu43insProAla
ENST00000527275.5:c.127_128insCGGCGC	ENSP00000435350.1:p.Ala42_Leu43insProAla
ENST00000530395.1:c.-96+86_-96+87insCGGCGC	ENSP00000431479.1:n.-96+86_-96+87insCGGCGC
ENST00000531303.5:c.127_128insCGGCGC	ENSP00000432625.1:p.Ala42_Leu43insProAla
ENST00000533123.5:c.127_128insCGGCGC	ENSP00000435950.1:p.Ala42_Leu43insProAla
ENST00000533196.1:n.286_287insCGGCGC
ENST00000534405.5:c.127_128insCGGCGC	ENSP00000434353.1:p.Ala42_Leu43insProAla
NM_000543.4:c.127_128insCGGCGC	NP_000534.3:p.Ala42_Leu43insProAla
NM_001007593.2:c.127_128insCGGCGC	NP_001007594.2:p.Ala42_Leu43insProAla
XM_005253075.3:c.127_128insCGGCGC	XP_005253132.1:p.Ala42_Leu43insProAla
XM_011520303.1:c.127_128insCGGCGC	XP_011518605.1:p.Ala42_Leu43insProAla
XM_011520304.1:c.127_128insCGGCGC	XP_011518606.1:p.Ala42_Leu43insProAla
XR_930886.1:n.425_426insCGGCGC
NM_001318087.1:c.127_128insCGGCGC	NP_001305016.1:p.Ala42_Leu43insProAla
NM_001318088.1:c.-835_-834insCGGCGC	NP_001305017.1:n.-835_-834insCGGCGC
NM_001365135.1:c.127_128insCGGCGC	NP_001352064.1:p.Ala42_Leu43insProAla
NR_027400.2:n.312_313insCGGCGC
NR_134502.1:n.312_313insCGGCGC
XM_011520304.2:c.127_128insCGGCGC	XP_011518606.1:p.Ala42_Leu43insProAla
XR_001747940.2:n.252_253insCGGCGC
XR_002957158.1:n.252_253insCGGCGC
NM_000543.5:c.127_128insCGGCGC MANE Select	NP_000534.3:p.Ala42_Leu43insProAla
NM_001007593.3:c.127_128insCGGCGC	NP_001007594.2:p.Ala42_Leu43insProAla
NM_001318087.2:c.127_128insCGGCGC	NP_001305016.1:p.Ala42_Leu43insProAla
NM_001318088.2:c.-835_-834insCGGCGC	NP_001305017.1:n.-835_-834insCGGCGC
NM_001365135.2:c.127_128insCGGCGC	NP_001352064.1:p.Ala42_Leu43insProAla
NR_027400.3:n.252_253insCGGCGC
NR_134502.2:n.252_253insCGGCGC