Canonical Allele Identifier: CA2612221025

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390741-C-CGCTGGCGCTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390741_6390742insGCTGGCGCTGGG , CM000673.2:g.6390741_6390742insGCTGGCGCTGGG	GRCh38
NC_000011.9:g.6411971_6411972insGCTGGCGCTGGG , CM000673.1:g.6411971_6411972insGCTGGCGCTGGG	GRCh37
NC_000011.8:g.6368547_6368548insGCTGGCGCTGGG	NCBI36
NG_011780.1:g.5317_5318insGCTGGCGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.143_144insGCTGGCGCTGGG MANE Select	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuGly
ENST00000342245.8:c.143_144insGCTGGCGCTGGG	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuGly
ENST00000527275.5:c.143_144insGCTGGCGCTGGG	ENSP00000435350.1:p.Ala48_Leu49insLeuAlaLeuGly
ENST00000530395.1:c.-96+102_-96+103insGCTGGCGCTGGG	ENSP00000431479.1:n.-96+102_-96+103insGCTGGCGCTGGG
ENST00000531303.5:c.143_144insGCTGGCGCTGGG	ENSP00000432625.1:p.Ala48_Leu49insLeuAlaLeuGly
ENST00000533123.5:c.143_144insGCTGGCGCTGGG	ENSP00000435950.1:p.Ala48_Leu49insLeuAlaLeuGly
ENST00000533196.1:n.302_303insGCTGGCGCTGGG
ENST00000534405.5:c.143_144insGCTGGCGCTGGG	ENSP00000434353.1:p.Ala48_Leu49insLeuAlaLeuGly
NM_000543.4:c.143_144insGCTGGCGCTGGG	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuGly
NM_001007593.2:c.143_144insGCTGGCGCTGGG	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuGly
XM_005253075.3:c.143_144insGCTGGCGCTGGG	XP_005253132.1:p.Ala48_Leu49insLeuAlaLeuGly
XM_011520303.1:c.143_144insGCTGGCGCTGGG	XP_011518605.1:p.Ala48_Leu49insLeuAlaLeuGly
XM_011520304.1:c.143_144insGCTGGCGCTGGG	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuGly
XR_930886.1:n.441_442insGCTGGCGCTGGG
NM_001318087.1:c.143_144insGCTGGCGCTGGG	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuGly
NM_001318088.1:c.-819_-818insGCTGGCGCTGGG	NP_001305017.1:n.-819_-818insGCTGGCGCTGGG
NM_001365135.1:c.143_144insGCTGGCGCTGGG	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuGly
NR_027400.2:n.328_329insGCTGGCGCTGGG
NR_134502.1:n.328_329insGCTGGCGCTGGG
XM_011520304.2:c.143_144insGCTGGCGCTGGG	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuGly
XR_001747940.2:n.268_269insGCTGGCGCTGGG
XR_002957158.1:n.268_269insGCTGGCGCTGGG
NM_000543.5:c.143_144insGCTGGCGCTGGG MANE Select	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuGly
NM_001007593.3:c.143_144insGCTGGCGCTGGG	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuGly
NM_001318087.2:c.143_144insGCTGGCGCTGGG	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuGly
NM_001318088.2:c.-819_-818insGCTGGCGCTGGG	NP_001305017.1:n.-819_-818insGCTGGCGCTGGG
NM_001365135.2:c.143_144insGCTGGCGCTGGG	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuGly
NR_027400.3:n.268_269insGCTGGCGCTGGG
NR_134502.2:n.268_269insGCTGGCGCTGGG