Canonical Allele Identifier: CA1069062097
Gene:

Linked Data

gnomAD v3: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAATAAAAATA
gnomAD v4: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAATAAAAATA
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601580_144601581insAAAAATAAAAATAAAAAAAAAAAAAAAAAAAA , CM000666.2:g.144601580_144601581insAAAAATAAAAATAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000004.11:g.145522732_145522733insAAAAATAAAAATAAAAAAAAAAAAAAAAAAAA , CM000666.1:g.145522732_145522733insAAAAATAAAAATAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000004.10:g.145742182_145742183insAAAAATAAAAATAAAAAAAAAAAAAAAAAAAA NCBI36

Transcript Alleles

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