Canonical Allele Identifier: CA2654731593

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169477-T-TACCCGAAAGAAACCGCCTCCTCAGCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169477_43169478insACCCGAAAGAAACCGCCTCCTCAGCCAC , CM000683.2:g.43169477_43169478insACCCGAAAGAAACCGCCTCCTCAGCCAC	GRCh38
NG_009823.1:g.5447_5448insACCCGAAAGAAACCGCCTCCTCAGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+189_189+190insACCCGAAAGAAACCGCCTCCTCAGCCAC MANE Select	ENSP00000291554.2:n.189+189_189+190insACCCGAAAGAAACCGCCTCCTCA...
ENST00000482775.1:n.203-56_203-55insACCCGAAAGAAACCGCCTCCTCAGCCAC
NM_000394.3:c.189+189_189+190insACCCGAAAGAAACCGCCTCCTCAGCCAC	NP_000385.1:n.189+189_189+190insACCCGAAAGAAACCGCCTCCTCAGCCAC
XR_001755073.1:n.647+1559_647+1560insGTGGCTGAGGAGGCGGTTTCTTTCGGGT
NM_000394.4:c.189+189_189+190insACCCGAAAGAAACCGCCTCCTCAGCCAC MANE Select	NP_000385.1:n.189+189_189+190insACCCGAAAGAAACCGCCTCCTCAGCCAC