Canonical Allele Identifier: CA321167905
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs970871318
gnomAD v3: 21-43169526-CCAT-C
gnomAD v4: 21-43169526-CCAT-C
MyVariant Identifiers: chr21:g.43169527_43169529del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169529_43169531del , CM000683.2:g.43169529_43169531del GRCh38
NG_009823.1:g.5499_5501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+241_189+243del MANE Select ENSP00000291554.2:n.189+241_189+243del
ENST00000482775.1:n.203-4_203-2del
NM_000394.3:c.189+241_189+243del NP_000385.1:n.189+241_189+243del
XR_001755073.1:n.647+1508_647+1510del
NM_000394.4:c.189+241_189+243del MANE Select NP_000385.1:n.189+241_189+243del
Search 100 bp 5'
Search 100 bp 3'