Canonical Allele Identifier: CA2654731549
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169436-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169437del , CM000683.2:g.43169437del GRCh38
NG_009823.1:g.5407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+149del MANE Select ENSP00000291554.2:n.189+149del
ENST00000482775.1:n.203-96del
NM_000394.3:c.189+149del NP_000385.1:n.189+149del
XR_001755073.1:n.647+1600del
NM_000394.4:c.189+149del MANE Select NP_000385.1:n.189+149del
Search 100 bp 5'
Search 100 bp 3'