Canonical Allele Identifier: CA2612221620

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391626-CCCCAAACCCCCTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391630_6391643del , CM000673.2:g.6391630_6391643del	GRCh38
NC_000011.9:g.6412860_6412873del , CM000673.1:g.6412860_6412873del	GRCh37
NC_000011.8:g.6369436_6369449del	NCBI36
NG_011780.1:g.6206_6219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.565_578del MANE Select	ENSP00000340409.4:p.Lys189ProfsTer15
ENST00000342245.8:c.565_578del	ENSP00000340409.4:p.Lys189ProfsTer15
ENST00000527275.5:c.562_575del	ENSP00000435350.1:p.Lys188ProfsTer15
ENST00000530395.1:c.-95-160_-95-147del	ENSP00000431479.1:n.-95-160_-95-147del
ENST00000531303.5:c.438+127_438+140del	ENSP00000432625.1:n.438+127_438+140del
ENST00000533123.5:c.565_578del	ENSP00000435950.1:p.Lys189ProfsTer15
ENST00000533196.1:n.375-376_375-363del
ENST00000534405.5:c.565_578del	ENSP00000434353.1:p.Lys189ProfsTer15
NM_000543.4:c.565_578del	NP_000534.3:p.Lys189ProfsTer15
NM_001007593.2:c.562_575del	NP_001007594.2:p.Lys188ProfsTer15
XM_005253075.3:c.565_578del	XP_005253132.1:p.Lys189ProfsTer15
XM_011520303.1:c.565_578del	XP_011518605.1:p.Lys189ProfsTer15
XM_011520304.1:c.565_578del	XP_011518606.1:p.Lys189ProfsTer15
XR_930886.1:n.863_876del
NM_001318087.1:c.565_578del	NP_001305016.1:p.Lys189ProfsTer15
NM_001318088.1:c.-397_-384del	NP_001305017.1:n.-397_-384del
NM_001365135.1:c.565_578del	NP_001352064.1:p.Lys189ProfsTer15
NR_027400.2:n.750_763del
NR_134502.1:n.623+127_623+140del
XM_011520304.2:c.565_578del	XP_011518606.1:p.Lys189ProfsTer15
XR_001747940.2:n.690_703del
XR_002957158.1:n.690_703del
NM_000543.5:c.565_578del MANE Select	NP_000534.3:p.Lys189ProfsTer15
NM_001007593.3:c.562_575del	NP_001007594.2:p.Lys188ProfsTer15
NM_001318087.2:c.565_578del	NP_001305016.1:p.Lys189ProfsTer15
NM_001318088.2:c.-397_-384del	NP_001305017.1:n.-397_-384del
NM_001365135.2:c.565_578del	NP_001352064.1:p.Lys189ProfsTer15
NR_027400.3:n.690_703del
NR_134502.2:n.563+127_563+140del