Canonical Allele Identifier: CA2654731554
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169443-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169444dup , CM000683.2:g.43169444dup GRCh38
NG_009823.1:g.5414dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+156dup MANE Select ENSP00000291554.2:n.189+156dup
ENST00000482775.1:n.203-89dup
NM_000394.3:c.189+156dup NP_000385.1:n.189+156dup
XR_001755073.1:n.647+1593dup
NM_000394.4:c.189+156dup MANE Select NP_000385.1:n.189+156dup
Search 100 bp 5'
Search 100 bp 3'