Canonical Allele Identifier: CA2654731605

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169491-A-ATTCAGGCTGCTCCCTTGTCCACCCTCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169491_43169492insTTCAGGCTGCTCCCTTGTCCACCCTCTCC , CM000683.2:g.43169491_43169492insTTCAGGCTGCTCCCTTGTCCACCCTCTCC	GRCh38
NG_009823.1:g.5461_5462insTTCAGGCTGCTCCCTTGTCCACCCTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTCC MANE Select	ENSP00000291554.2:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACC...
ENST00000482775.1:n.203-42_203-41insTTCAGGCTGCTCCCTTGTCCACCCTCTCC
NM_000394.3:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTCC	NP_000385.1:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTCC...
XR_001755073.1:n.647+1545_647+1546insGGAGAGGGTGGACAAGGGAGCAGCCTGAA
NM_000394.4:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTCC MANE Select	NP_000385.1:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTCC...