Canonical Allele Identifier: CA2391130874
Gene: CRYAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169579_43169580delinsAC , CM000683.2:g.43169579_43169580delinsAC GRCh38
NG_009823.1:g.5549_5550delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+291_189+292delinsAC MANE Select ENSP00000291554.2:n.189+291_189+292delinsAC
ENST00000482775.1:n.249_250delinsAC
NM_000394.3:c.189+291_189+292delinsAC NP_000385.1:n.189+291_189+292delinsAC
XR_001755073.1:n.647+1457_647+1458delinsGT
NM_000394.4:c.189+291_189+292delinsAC MANE Select NP_000385.1:n.189+291_189+292delinsAC