Canonical Allele Identifier: CA2654731610

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169493-A-AGGCTGCTCCCTTGTCCACCCTCTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169493_43169494insGGCTGCTCCCTTGTCCACCCTCTCCCC , CM000683.2:g.43169493_43169494insGGCTGCTCCCTTGTCCACCCTCTCCCC	GRCh38
NG_009823.1:g.5463_5464insGGCTGCTCCCTTGTCCACCCTCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCTCCCC MANE Select	ENSP00000291554.2:n.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCT...
ENST00000482775.1:n.203-40_203-39insGGCTGCTCCCTTGTCCACCCTCTCCCC
NM_000394.3:c.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCTCCCC	NP_000385.1:n.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCTCCCC
XR_001755073.1:n.647+1543_647+1544insGGGGAGAGGGTGGACAAGGGAGCAGCC
NM_000394.4:c.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCTCCCC MANE Select	NP_000385.1:n.189+205_189+206insGGCTGCTCCCTTGTCCACCCTCTCCCC