Canonical Allele Identifier: CA2574738645

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393299_6393301del , CM000673.2:g.6393299_6393301del	GRCh38
NC_000011.9:g.6414529_6414531del , CM000673.1:g.6414529_6414531del	GRCh37
NC_000011.8:g.6371105_6371107del	NCBI36
NG_011780.1:g.7875_7877del
NG_029615.1:g.31116_31118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1175_1177del MANE Select	ENSP00000340409.4:p.Phe392del
ENST00000342245.8:c.1175_1177del	ENSP00000340409.4:p.Phe392del
ENST00000526280.1:c.321-318_321-316del
ENST00000527275.5:c.1172_1174del	ENSP00000435350.1:p.Phe391del
ENST00000531303.5:c.*6_*8del	ENSP00000432625.1:n.*6_*8del
ENST00000531336.1:n.7_9del
ENST00000533123.5:c.1092-318_1092-316del	ENSP00000435950.1:n.1092-318_1092-316del
ENST00000534405.5:c.*6_*8del	ENSP00000434353.1:n.*6_*8del
NM_000543.4:c.1175_1177del	NP_000534.3:p.Phe392del
NM_001007593.2:c.1172_1174del	NP_001007594.2:p.Phe391del
XM_005253075.3:c.1175_1177del	XP_005253132.1:p.Phe392del
XM_011520303.1:c.1132-318_1132-316del	XP_011518605.1:n.1132-318_1132-316del
XM_011520304.1:c.1132-318_1132-316del	XP_011518606.1:n.1132-318_1132-316del
XR_930886.1:n.1513_1515del
NM_001318087.1:c.1175_1177del	NP_001305016.1:p.Phe392del
NM_001318088.1:c.254_256del	NP_001305017.1:p.Phe85del
NM_001365135.1:c.1132-318_1132-316del	NP_001352064.1:n.1132-318_1132-316del
NR_027400.2:n.1277-318_1277-316del
NR_134502.1:n.707_709del
XM_011520304.2:c.1132-318_1132-316del	XP_011518606.1:n.1132-318_1132-316del
XR_001747940.2:n.1340_1342del
XR_002957158.1:n.1340_1342del
NM_000543.5:c.1175_1177del MANE Select	NP_000534.3:p.Phe392del
NM_001007593.3:c.1172_1174del	NP_001007594.2:p.Phe391del
NM_001318087.2:c.1175_1177del	NP_001305016.1:p.Phe392del
NM_001318088.2:c.254_256del	NP_001305017.1:p.Phe85del
NM_001365135.2:c.1132-318_1132-316del	NP_001352064.1:n.1132-318_1132-316del
NR_027400.3:n.1217-318_1217-316del
NR_134502.2:n.647_649del