Canonical Allele Identifier: CA1084362678
Gene: SMIM23 HGNC NCBI

Linked Data

gnomAD v3: 5-171776264-A-AGGGGGGGGTGGGGGGGGG
gnomAD v4: 5-171776264-A-AGGGGGGGGTGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776271_171776272insGTGGGGGGGGGGGGGGGG , CM000667.2:g.171776271_171776272insGTGGGGGGGGGGGGGGGG GRCh38
NC_000005.9:g.171203275_171203276insGTGGGGGGGGGGGGGGGG , CM000667.1:g.171203275_171203276insGTGGGGGGGGGGGGGGGG GRCh37
NC_000005.8:g.171135880_171135881insGTGGGGGGGGGGGGGGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011534623.1:c.3+2313_3+2314insGTGGGGGGGGGGGGGGGG XP_011532925.1:n.3+2313_3+2314insGTGGGGGGGGGGGGGGGG
XM_011534624.1:c.3+2313_3+2314insGTGGGGGGGGGGGGGGGG XP_011532926.1:n.3+2313_3+2314insGTGGGGGGGGGGGGGGGG
XM_011534623.2:c.3+2313_3+2314insGTGGGGGGGGGGGGGGGG XP_011532925.1:n.3+2313_3+2314insGTGGGGGGGGGGGGGGGG
XM_011534624.2:c.3+2313_3+2314insGTGGGGGGGGGGGGGGGG XP_011532926.1:n.3+2313_3+2314insGTGGGGGGGGGGGGGGGG
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