Canonical Allele Identifier: CA749619352
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1231302535
gnomAD v3: 21-43169579-AC-A
gnomAD v4: 21-43169579-AC-A
MyVariant Identifiers: chr21:g.43169580del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169583del , CM000683.2:g.43169583del GRCh38
NG_009823.1:g.5553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+295del MANE Select ENSP00000291554.2:n.189+295del
ENST00000482775.1:n.253del
NM_000394.3:c.189+295del NP_000385.1:n.189+295del
XR_001755073.1:n.647+1457del
NM_000394.4:c.189+295del MANE Select NP_000385.1:n.189+295del
Search 100 bp 5'
Search 100 bp 3'