Canonical Allele Identifier: CA934779084
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v3: 11-6390387-T-TTTTTTAA
gnomAD v4: 11-6390387-T-TTTTTTAA
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390388_6390389insTTTTAAT , CM000673.2:g.6390388_6390389insTTTTAAT GRCh38
NC_000011.9:g.6411618_6411619insTTTTAAT , CM000673.1:g.6411618_6411619insTTTTAAT GRCh37
NC_000011.8:g.6368194_6368195insTTTTAAT NCBI36
NG_011780.1:g.4964_4965insTTTTAAT

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-211_-210insTTTTAAT XP_005253132.1:n.-211_-210insTTTTAAT
XM_011520303.1:c.-211_-210insTTTTAAT XP_011518605.1:n.-211_-210insTTTTAAT
XM_011520304.1:c.-211_-210insTTTTAAT XP_011518606.1:n.-211_-210insTTTTAAT
XR_930886.1:n.88_89insTTTTAAT
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