Canonical Allele Identifier: CA934779086

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6390388-T-TTTTTAATGA
• gnomAD v4: 11-6390388-T-TTTTTAATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390388_6390389insTTTTAATGA , CM000673.2:g.6390388_6390389insTTTTAATGA	GRCh38
NC_000011.9:g.6411618_6411619insTTTTAATGA , CM000673.1:g.6411618_6411619insTTTTAATGA	GRCh37
NC_000011.8:g.6368194_6368195insTTTTAATGA	NCBI36
NG_011780.1:g.4964_4965insTTTTAATGA

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-211_-210insTTTTAATGA	XP_005253132.1:n.-211_-210insTTTTAATGA
XM_011520303.1:c.-211_-210insTTTTAATGA	XP_011518605.1:n.-211_-210insTTTTAATGA
XM_011520304.1:c.-211_-210insTTTTAATGA	XP_011518606.1:n.-211_-210insTTTTAATGA
XR_930886.1:n.88_89insTTTTAATGA