Canonical Allele Identifier: CA2740093613

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2950950
• ClinVar RCV Id: RCV003802212

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393695_6393702del , CM000673.2:g.6393695_6393702del	GRCh38
NC_000011.9:g.6414925_6414932del , CM000673.1:g.6414925_6414932del	GRCh37
NC_000011.8:g.6371501_6371508del	NCBI36
NG_011780.1:g.8271_8278del
NG_029615.1:g.30715_30722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340+2_1340+9del
ENST00000342245.8:c.1340+2_1340+9del
ENST00000526280.1:c.397+2_397+9del
ENST00000527275.5:c.1337+2_1337+9del
ENST00000531303.5:c.*171+2_*171+9del
ENST00000531336.1:n.172+2_172+9del
ENST00000532367.1:n.176+2_176+9del
ENST00000533123.5:c.*67+2_*67+9del
ENST00000534405.5:c.*171+2_*171+9del
NM_000543.4:c.1340+2_1340+9del
NM_001007593.2:c.1337+2_1337+9del
XM_005253075.3:c.1340+2_1340+9del
XM_011520303.1:c.1208+2_1208+9del
XM_011520304.1:c.1208+2_1208+9del
XR_930886.1:n.1678+2_1678+9del
NM_001318087.1:c.1340+2_1340+9del
NM_001318088.1:c.419+2_419+9del
NM_001365135.1:c.1208+2_1208+9del
NR_027400.2:n.1353+2_1353+9del
NR_134502.1:n.872+2_872+9del
XM_011520304.2:c.1208+2_1208+9del
XR_001747940.2:n.1505+2_1505+9del
XR_002957158.1:n.1507_1514del
NM_000543.5:c.1340+2_1340+9del
NM_001007593.3:c.1337+2_1337+9del
NM_001318087.2:c.1340+2_1340+9del
NM_001318088.2:c.419+2_419+9del
NM_001365135.2:c.1208+2_1208+9del
NR_027400.3:n.1293+2_1293+9del
NR_134502.2:n.812+2_812+9del