Canonical Allele Identifier: CA2654731447
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169077-TCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169080_43169081del , CM000683.2:g.43169080_43169081del GRCh38
NG_009823.1:g.5050_5051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-20_-19del MANE Select ENSP00000291554.2:n.-20_-19del
NM_000394.3:c.-20_-19del NP_000385.1:n.-20_-19del
XR_001755073.1:n.647+1958_647+1959del
NM_000394.4:c.-20_-19del MANE Select NP_000385.1:n.-20_-19del
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