Canonical Allele Identifier: CA3003109634

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393567_6393568insCCA , CM000673.2:g.6393567_6393568insCCA	GRCh38
NC_000011.9:g.6414797_6414798insCCA , CM000673.1:g.6414797_6414798insCCA	GRCh37
NC_000011.8:g.6371373_6371374insCCA	NCBI36
NG_011780.1:g.8143_8144insCCA
NG_029615.1:g.30847_30848insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1264-50_1264-49insCCA MANE Select	ENSP00000340409.4:n.1264-50_1264-49insCCA
ENST00000342245.8:c.1264-50_1264-49insCCA	ENSP00000340409.4:n.1264-50_1264-49insCCA
ENST00000526280.1:c.321-50_321-49insCCA
ENST00000527275.5:c.1261-50_1261-49insCCA	ENSP00000435350.1:n.1261-50_1261-49insCCA
ENST00000531303.5:c.*95-50_*95-49insCCA	ENSP00000432625.1:n.*95-50_*95-49insCCA
ENST00000531336.1:n.96-50_96-49insCCA
ENST00000532367.1:n.50_51insCCA
ENST00000533123.5:c.1092-50_1092-49insCCA	ENSP00000435950.1:n.1092-50_1092-49insCCA
ENST00000534405.5:c.*95-50_*95-49insCCA	ENSP00000434353.1:n.*95-50_*95-49insCCA
NM_000543.4:c.1264-50_1264-49insCCA	NP_000534.3:n.1264-50_1264-49insCCA
NM_001007593.2:c.1261-50_1261-49insCCA	NP_001007594.2:n.1261-50_1261-49insCCA
XM_005253075.3:c.1264-50_1264-49insCCA	XP_005253132.1:n.1264-50_1264-49insCCA
XM_011520303.1:c.1132-50_1132-49insCCA	XP_011518605.1:n.1132-50_1132-49insCCA
XM_011520304.1:c.1132-50_1132-49insCCA	XP_011518606.1:n.1132-50_1132-49insCCA
XR_930886.1:n.1602-50_1602-49insCCA
NM_001318087.1:c.1264-50_1264-49insCCA	NP_001305016.1:n.1264-50_1264-49insCCA
NM_001318088.1:c.343-50_343-49insCCA	NP_001305017.1:n.343-50_343-49insCCA
NM_001365135.1:c.1132-50_1132-49insCCA	NP_001352064.1:n.1132-50_1132-49insCCA
NR_027400.2:n.1277-50_1277-49insCCA
NR_134502.1:n.796-50_796-49insCCA
XM_011520304.2:c.1132-50_1132-49insCCA	XP_011518606.1:n.1132-50_1132-49insCCA
XR_001747940.2:n.1429-50_1429-49insCCA
XR_002957158.1:n.1429-50_1429-49insCCA
NM_000543.5:c.1264-50_1264-49insCCA MANE Select	NP_000534.3:n.1264-50_1264-49insCCA
NM_001007593.3:c.1261-50_1261-49insCCA	NP_001007594.2:n.1261-50_1261-49insCCA
NM_001318087.2:c.1264-50_1264-49insCCA	NP_001305016.1:n.1264-50_1264-49insCCA
NM_001318088.2:c.343-50_343-49insCCA	NP_001305017.1:n.343-50_343-49insCCA
NM_001365135.2:c.1132-50_1132-49insCCA	NP_001352064.1:n.1132-50_1132-49insCCA
NR_027400.3:n.1217-50_1217-49insCCA
NR_134502.2:n.736-50_736-49insCCA