Canonical Allele Identifier: CA5852498

Gene: SMPD1

Linked Data

• dbSNP Id: rs760387381
• ExAC: 11:6411963 G / GGCGCTGGCGCTC
• MyVariant Identifiers: chr11:g.6411963_6411964insGCGCTGGCGCTC (hg19) ; chr11:g.6390733_6390734insGCGCTGGCGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390741_6390742insGCTCGCGCTGGC , CM000673.2:g.6390741_6390742insGCTCGCGCTGGC	GRCh38
NC_000011.9:g.6411971_6411972insGCTCGCGCTGGC , CM000673.1:g.6411971_6411972insGCTCGCGCTGGC	GRCh37
NC_000011.8:g.6368547_6368548insGCTCGCGCTGGC	NCBI36
NG_011780.1:g.5317_5318insGCTCGCGCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.143_144insGCTCGCGCTGGC MANE Select	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAla
ENST00000342245.8:c.143_144insGCTCGCGCTGGC	ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAla
ENST00000527275.5:c.143_144insGCTCGCGCTGGC	ENSP00000435350.1:p.Ala48_Leu49insLeuAlaLeuAla
ENST00000530395.1:c.-96+102_-96+103insGCTCGCGCTGGC	ENSP00000431479.1:n.-96+102_-96+103insGCTCGCGCTGGC
ENST00000531303.5:c.143_144insGCTCGCGCTGGC	ENSP00000432625.1:p.Ala48_Leu49insLeuAlaLeuAla
ENST00000533123.5:c.143_144insGCTCGCGCTGGC	ENSP00000435950.1:p.Ala48_Leu49insLeuAlaLeuAla
ENST00000533196.1:n.302_303insGCTCGCGCTGGC
ENST00000534405.5:c.143_144insGCTCGCGCTGGC	ENSP00000434353.1:p.Ala48_Leu49insLeuAlaLeuAla
NM_000543.4:c.143_144insGCTCGCGCTGGC	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAla
NM_001007593.2:c.143_144insGCTCGCGCTGGC	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAla
XM_005253075.3:c.143_144insGCTCGCGCTGGC	XP_005253132.1:p.Ala48_Leu49insLeuAlaLeuAla
XM_011520303.1:c.143_144insGCTCGCGCTGGC	XP_011518605.1:p.Ala48_Leu49insLeuAlaLeuAla
XM_011520304.1:c.143_144insGCTCGCGCTGGC	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAla
XR_930886.1:n.441_442insGCTCGCGCTGGC
NM_001318087.1:c.143_144insGCTCGCGCTGGC	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAla
NM_001318088.1:c.-819_-818insGCTCGCGCTGGC	NP_001305017.1:n.-819_-818insGCTCGCGCTGGC
NM_001365135.1:c.143_144insGCTCGCGCTGGC	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAla
NR_027400.2:n.328_329insGCTCGCGCTGGC
NR_134502.1:n.328_329insGCTCGCGCTGGC
XM_011520304.2:c.143_144insGCTCGCGCTGGC	XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAla
XR_001747940.2:n.268_269insGCTCGCGCTGGC
XR_002957158.1:n.268_269insGCTCGCGCTGGC
NM_000543.5:c.143_144insGCTCGCGCTGGC MANE Select	NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAla
NM_001007593.3:c.143_144insGCTCGCGCTGGC	NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAla
NM_001318087.2:c.143_144insGCTCGCGCTGGC	NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAla
NM_001318088.2:c.-819_-818insGCTCGCGCTGGC	NP_001305017.1:n.-819_-818insGCTCGCGCTGGC
NM_001365135.2:c.143_144insGCTCGCGCTGGC	NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAla
NR_027400.3:n.268_269insGCTCGCGCTGGC
NR_134502.2:n.268_269insGCTCGCGCTGGC