Canonical Allele Identifier: CA2612223182

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393463-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393466_6393468del , CM000673.2:g.6393466_6393468del	GRCh38
NC_000011.9:g.6414696_6414698del , CM000673.1:g.6414696_6414698del	GRCh37
NC_000011.8:g.6371272_6371274del	NCBI36
NG_011780.1:g.8042_8044del
NG_029615.1:g.30949_30951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+79_1263+81del MANE Select	ENSP00000340409.4:n.1263+79_1263+81del
ENST00000342245.8:c.1263+79_1263+81del	ENSP00000340409.4:n.1263+79_1263+81del
ENST00000526280.1:c.321-151_321-149del
ENST00000527275.5:c.1260+79_1260+81del	ENSP00000435350.1:n.1260+79_1260+81del
ENST00000531303.5:c.*94+79_*94+81del	ENSP00000432625.1:n.*94+79_*94+81del
ENST00000531336.1:n.95+79_95+81del
ENST00000533123.5:c.1092-151_1092-149del	ENSP00000435950.1:n.1092-151_1092-149del
ENST00000534405.5:c.*94+79_*94+81del	ENSP00000434353.1:n.*94+79_*94+81del
NM_000543.4:c.1263+79_1263+81del	NP_000534.3:n.1263+79_1263+81del
NM_001007593.2:c.1260+79_1260+81del	NP_001007594.2:n.1260+79_1260+81del
XM_005253075.3:c.1263+79_1263+81del	XP_005253132.1:n.1263+79_1263+81del
XM_011520303.1:c.1132-151_1132-149del	XP_011518605.1:n.1132-151_1132-149del
XM_011520304.1:c.1132-151_1132-149del	XP_011518606.1:n.1132-151_1132-149del
XR_930886.1:n.1601+79_1601+81del
NM_001318087.1:c.1263+79_1263+81del	NP_001305016.1:n.1263+79_1263+81del
NM_001318088.1:c.342+79_342+81del	NP_001305017.1:n.342+79_342+81del
NM_001365135.1:c.1132-151_1132-149del	NP_001352064.1:n.1132-151_1132-149del
NR_027400.2:n.1277-151_1277-149del
NR_134502.1:n.795+79_795+81del
XM_011520304.2:c.1132-151_1132-149del	XP_011518606.1:n.1132-151_1132-149del
XR_001747940.2:n.1428+79_1428+81del
XR_002957158.1:n.1428+79_1428+81del
NM_000543.5:c.1263+79_1263+81del MANE Select	NP_000534.3:n.1263+79_1263+81del
NM_001007593.3:c.1260+79_1260+81del	NP_001007594.2:n.1260+79_1260+81del
NM_001318087.2:c.1263+79_1263+81del	NP_001305016.1:n.1263+79_1263+81del
NM_001318088.2:c.342+79_342+81del	NP_001305017.1:n.342+79_342+81del
NM_001365135.2:c.1132-151_1132-149del	NP_001352064.1:n.1132-151_1132-149del
NR_027400.3:n.1217-151_1217-149del
NR_134502.2:n.735+79_735+81del