Canonical Allele Identifier: CA2654731498
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169352-GGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169356_43169357del , CM000683.2:g.43169356_43169357del GRCh38
NG_009823.1:g.5326_5327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+68_189+69del MANE Select ENSP00000291554.2:n.189+68_189+69del
ENST00000482775.1:n.202+68_202+69del
NM_000394.3:c.189+68_189+69del NP_000385.1:n.189+68_189+69del
XR_001755073.1:n.647+1683_647+1684del
NM_000394.4:c.189+68_189+69del MANE Select NP_000385.1:n.189+68_189+69del
Search 100 bp 5'
Search 100 bp 3'