Canonical Allele Identifier: CA597438155

Gene: SMPD1

Linked Data

• dbSNP Id: rs1479889795
• gnomAD v2: 11-6414909-C-CCGAATTGTAGCCAGGTAGGA
• gnomAD v3: 11-6393679-C-CCGAATTGTAGCCAGGTAGGA
• gnomAD v4: 11-6393679-C-CCGAATTGTAGCCAGGTAGGA
• MyVariant Identifiers: chr11:g.6414909_6414910insCGAATTGTAGCCAGGTAGGA (hg19) ; chr11:g.6393679_6393680insCGAATTGTAGCCAGGTAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393682_6393701dup , CM000673.2:g.6393682_6393701dup	GRCh38
NC_000011.9:g.6414912_6414931dup , CM000673.1:g.6414912_6414931dup	GRCh37
NC_000011.8:g.6371488_6371507dup	NCBI36
NG_011780.1:g.8258_8277dup
NG_029615.1:g.30716_30735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1329_1340+8dup
ENST00000342245.8:c.1329_1340+8dup
ENST00000526280.1:c.386_397+8dup
ENST00000527275.5:c.1326_1337+8dup
ENST00000531303.5:c.*160_*171+8dup
ENST00000531336.1:n.161_172+8dup
ENST00000532367.1:n.165_176+8dup
ENST00000533123.5:c.*56_*67+8dup
ENST00000534405.5:c.*160_*171+8dup
NM_000543.4:c.1329_1340+8dup
NM_001007593.2:c.1326_1337+8dup
XM_005253075.3:c.1329_1340+8dup
XM_011520303.1:c.1197_1208+8dup
XM_011520304.1:c.1197_1208+8dup
XR_930886.1:n.1667_1678+8dup
NM_001318087.1:c.1329_1340+8dup
NM_001318088.1:c.408_419+8dup
NM_001365135.1:c.1197_1208+8dup
NR_027400.2:n.1342_1353+8dup
NR_134502.1:n.861_872+8dup
XM_011520304.2:c.1197_1208+8dup
XR_001747940.2:n.1494_1505+8dup
XR_002957158.1:n.1494_1513dup
NM_000543.5:c.1329_1340+8dup
NM_001007593.3:c.1326_1337+8dup
NM_001318087.2:c.1329_1340+8dup
NM_001318088.2:c.408_419+8dup
NM_001365135.2:c.1197_1208+8dup
NR_027400.3:n.1282_1293+8dup
NR_134502.2:n.801_812+8dup