Canonical Allele Identifier: CA2511289890

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393553del , CM000673.2:g.6393553del	GRCh38
NC_000011.9:g.6414783del , CM000673.1:g.6414783del	GRCh37
NC_000011.8:g.6371359del	NCBI36
NG_011780.1:g.8129del
NG_029615.1:g.30864del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1264-64del MANE Select	ENSP00000340409.4:n.1264-64del
ENST00000342245.8:c.1264-64del	ENSP00000340409.4:n.1264-64del
ENST00000526280.1:c.321-64del
ENST00000527275.5:c.1261-64del	ENSP00000435350.1:n.1261-64del
ENST00000531303.5:c.*95-64del	ENSP00000432625.1:n.*95-64del
ENST00000531336.1:n.96-64del
ENST00000532367.1:n.36del
ENST00000533123.5:c.1092-64del	ENSP00000435950.1:n.1092-64del
ENST00000534405.5:c.*95-64del	ENSP00000434353.1:n.*95-64del
NM_000543.4:c.1264-64del	NP_000534.3:n.1264-64del
NM_001007593.2:c.1261-64del	NP_001007594.2:n.1261-64del
XM_005253075.3:c.1264-64del	XP_005253132.1:n.1264-64del
XM_011520303.1:c.1132-64del	XP_011518605.1:n.1132-64del
XM_011520304.1:c.1132-64del	XP_011518606.1:n.1132-64del
XR_930886.1:n.1602-64del
NM_001318087.1:c.1264-64del	NP_001305016.1:n.1264-64del
NM_001318088.1:c.343-64del	NP_001305017.1:n.343-64del
NM_001365135.1:c.1132-64del	NP_001352064.1:n.1132-64del
NR_027400.2:n.1277-64del
NR_134502.1:n.796-64del
XM_011520304.2:c.1132-64del	XP_011518606.1:n.1132-64del
XR_001747940.2:n.1429-64del
XR_002957158.1:n.1429-64del
NM_000543.5:c.1264-64del MANE Select	NP_000534.3:n.1264-64del
NM_001007593.3:c.1261-64del	NP_001007594.2:n.1261-64del
NM_001318087.2:c.1264-64del	NP_001305016.1:n.1264-64del
NM_001318088.2:c.343-64del	NP_001305017.1:n.343-64del
NM_001365135.2:c.1132-64del	NP_001352064.1:n.1132-64del
NR_027400.3:n.1217-64del
NR_134502.2:n.736-64del