Canonical Allele Identifier: CA2612223298

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393689-G-GCCAGGTAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393691_6393700dup , CM000673.2:g.6393691_6393700dup	GRCh38
NC_000011.9:g.6414921_6414930dup , CM000673.1:g.6414921_6414930dup	GRCh37
NC_000011.8:g.6371497_6371506dup	NCBI36
NG_011780.1:g.8267_8276dup
NG_029615.1:g.30716_30725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1338_1340+7dup
ENST00000342245.8:c.1338_1340+7dup
ENST00000526280.1:c.395_397+7dup
ENST00000527275.5:c.1335_1337+7dup
ENST00000531303.5:c.*169_*171+7dup
ENST00000531336.1:n.170_172+7dup
ENST00000532367.1:n.174_176+7dup
ENST00000533123.5:c.*65_*67+7dup
ENST00000534405.5:c.*169_*171+7dup
NM_000543.4:c.1338_1340+7dup
NM_001007593.2:c.1335_1337+7dup
XM_005253075.3:c.1338_1340+7dup
XM_011520303.1:c.1206_1208+7dup
XM_011520304.1:c.1206_1208+7dup
XR_930886.1:n.1676_1678+7dup
NM_001318087.1:c.1338_1340+7dup
NM_001318088.1:c.417_419+7dup
NM_001365135.1:c.1206_1208+7dup
NR_027400.2:n.1351_1353+7dup
NR_134502.1:n.870_872+7dup
XM_011520304.2:c.1206_1208+7dup
XR_001747940.2:n.1503_1505+7dup
XR_002957158.1:n.1503_1512dup
NM_000543.5:c.1338_1340+7dup
NM_001007593.3:c.1335_1337+7dup
NM_001318087.2:c.1338_1340+7dup
NM_001318088.2:c.417_419+7dup
NM_001365135.2:c.1206_1208+7dup
NR_027400.3:n.1291_1293+7dup
NR_134502.2:n.810_812+7dup