Canonical Allele Identifier: CA2612221018

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390732-TGGCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390733_6390737del , CM000673.2:g.6390733_6390737del	GRCh38
NC_000011.9:g.6411963_6411967del , CM000673.1:g.6411963_6411967del	GRCh37
NC_000011.8:g.6368539_6368543del	NCBI36
NG_011780.1:g.5309_5313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.135_139del MANE Select	ENSP00000340409.4:p.Ala46GlyfsTer4
ENST00000342245.8:c.135_139del	ENSP00000340409.4:p.Ala46GlyfsTer4
ENST00000527275.5:c.135_139del	ENSP00000435350.1:p.Ala46GlyfsTer4
ENST00000530395.1:c.-96+94_-96+98del	ENSP00000431479.1:n.-96+94_-96+98del
ENST00000531303.5:c.135_139del	ENSP00000432625.1:p.Ala46GlyfsTer4
ENST00000533123.5:c.135_139del	ENSP00000435950.1:p.Ala46GlyfsTer4
ENST00000533196.1:n.294_298del
ENST00000534405.5:c.135_139del	ENSP00000434353.1:p.Ala46GlyfsTer4
NM_000543.4:c.135_139del	NP_000534.3:p.Ala46GlyfsTer4
NM_001007593.2:c.135_139del	NP_001007594.2:p.Ala46GlyfsTer4
XM_005253075.3:c.135_139del	XP_005253132.1:p.Ala46GlyfsTer4
XM_011520303.1:c.135_139del	XP_011518605.1:p.Ala46GlyfsTer4
XM_011520304.1:c.135_139del	XP_011518606.1:p.Ala46GlyfsTer4
XR_930886.1:n.433_437del
NM_001318087.1:c.135_139del	NP_001305016.1:p.Ala46GlyfsTer4
NM_001318088.1:c.-827_-823del	NP_001305017.1:n.-827_-823del
NM_001365135.1:c.135_139del	NP_001352064.1:p.Ala46GlyfsTer4
NR_027400.2:n.320_324del
NR_134502.1:n.320_324del
XM_011520304.2:c.135_139del	XP_011518606.1:p.Ala46GlyfsTer4
XR_001747940.2:n.260_264del
XR_002957158.1:n.260_264del
NM_000543.5:c.135_139del MANE Select	NP_000534.3:p.Ala46GlyfsTer4
NM_001007593.3:c.135_139del	NP_001007594.2:p.Ala46GlyfsTer4
NM_001318087.2:c.135_139del	NP_001305016.1:p.Ala46GlyfsTer4
NM_001318088.2:c.-827_-823del	NP_001305017.1:n.-827_-823del
NM_001365135.2:c.135_139del	NP_001352064.1:p.Ala46GlyfsTer4
NR_027400.3:n.260_264del
NR_134502.2:n.260_264del