Canonical Allele Identifier: CA2654731606
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169491-A-ATTCAGGCTGCTCCCTTGTCCACCCTCTC
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169491_43169492insTTCAGGCTGCTCCCTTGTCCACCCTCTC , CM000683.2:g.43169491_43169492insTTCAGGCTGCTCCCTTGTCCACCCTCTC GRCh38
NG_009823.1:g.5461_5462insTTCAGGCTGCTCCCTTGTCCACCCTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTC MANE Select ENSP00000291554.2:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACC...
ENST00000482775.1:n.203-42_203-41insTTCAGGCTGCTCCCTTGTCCACCCTCTC
NM_000394.3:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTC NP_000385.1:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTC
XR_001755073.1:n.647+1545_647+1546insGAGAGGGTGGACAAGGGAGCAGCCTGAA
NM_000394.4:c.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTC MANE Select NP_000385.1:n.189+203_189+204insTTCAGGCTGCTCCCTTGTCCACCCTCTC
Search 100 bp 5'
Search 100 bp 3'