Canonical Allele Identifier: CA1069062099

Gene:

Linked Data

• gnomAD v3: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 4-144601561-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601580_144601581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000666.2:g.144601580_144601581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000004.11:g.145522732_145522733insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000666.1:g.145522732_145522733insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000004.10:g.145742182_145742183insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36

Transcript Alleles

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