Canonical Allele Identifier: CA2654731494
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169343-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169344del , CM000683.2:g.43169344del GRCh38
NG_009823.1:g.5314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+56del MANE Select ENSP00000291554.2:n.189+56del
ENST00000482775.1:n.202+56del
NM_000394.3:c.189+56del NP_000385.1:n.189+56del
XR_001755073.1:n.647+1693del
NM_000394.4:c.189+56del MANE Select NP_000385.1:n.189+56del
Search 100 bp 5'
Search 100 bp 3'