Canonical Allele Identifier: CA749619225
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1366308209
gnomAD v4: 21-43169344-CGGTG-C
MyVariant Identifiers: chr21:g.43169345_43169348del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169350_43169353del , CM000683.2:g.43169350_43169353del GRCh38
NG_009823.1:g.5320_5323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+62_189+65del MANE Select ENSP00000291554.2:n.189+62_189+65del
ENST00000482775.1:n.202+62_202+65del
NM_000394.3:c.189+62_189+65del NP_000385.1:n.189+62_189+65del
XR_001755073.1:n.647+1689_647+1692del
NM_000394.4:c.189+62_189+65del MANE Select NP_000385.1:n.189+62_189+65del
Search 100 bp 5'
Search 100 bp 3'