Canonical Allele Identifier: CA2654731583

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169469-C-CTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169469_43169470insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG , CM000683.2:g.43169469_43169470insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG	GRCh38
NG_009823.1:g.5439_5440insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG MANE Select	ENSP00000291554.2:n.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCC...
ENST00000482775.1:n.203-64_203-63insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG
NM_000394.3:c.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG	NP_000385.1:n.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCCAGGGGA...
XR_001755073.1:n.647+1567_647+1568insCTTCCCCTGGCACTGGGGAGAGGGTGGACAA
NM_000394.4:c.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCCAGGGGAAG MANE Select	NP_000385.1:n.189+181_189+182insTTGTCCACCCTCTCCCCAGTGCCAGGGGA...