Canonical Allele Identifier: CA1069062117
Gene:

Linked Data

gnomAD v3: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601580_144601581insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000666.2:g.144601580_144601581insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000004.11:g.145522732_145522733insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000666.1:g.145522732_145522733insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000004.10:g.145742182_145742183insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185584_328-185583insTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000497507.1:n.328-185584_328-185583insTTTTTTTTTTTTTTTTT...
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