Canonical Allele Identifier: CA1022638200
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985740696
gnomAD v3: 21-43169395-TCGTCCCACTTCATCC-T
gnomAD v4: 21-43169395-TCGTCCCACTTCATCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169397_43169411del , CM000683.2:g.43169397_43169411del GRCh38
NG_009823.1:g.5367_5381del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+109_189+123del MANE Select ENSP00000291554.2:n.189+109_189+123del
ENST00000482775.1:n.202+109_203-122del
NM_000394.3:c.189+109_189+123del NP_000385.1:n.189+109_189+123del
XR_001755073.1:n.647+1627_647+1641del
NM_000394.4:c.189+109_189+123del MANE Select NP_000385.1:n.189+109_189+123del
Search 100 bp 5'
Search 100 bp 3'