Canonical Allele Identifier: CA2391130802

Gene: CRYAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169395_43169410delinsTCGTCCCACTTCATCC , CM000683.2:g.43169395_43169410delinsTCGTCCCACTTCATCC	GRCh38
NG_009823.1:g.5365_5380delinsTCGTCCCACTTCATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+107_189+122delinsTCGTCCCACTTCATCC MANE Select	ENSP00000291554.2:n.189+107_189+122delinsTCGTCCCACTTCATCC
ENST00000482775.1:n.202+107_203-123delinsTCGTCCCACTTCATCC
NM_000394.3:c.189+107_189+122delinsTCGTCCCACTTCATCC	NP_000385.1:n.189+107_189+122delinsTCGTCCCACTTCATCC
XR_001755073.1:n.647+1627_647+1642delinsGGATGAAGTGGGACGA
NM_000394.4:c.189+107_189+122delinsTCGTCCCACTTCATCC MANE Select	NP_000385.1:n.189+107_189+122delinsTCGTCCCACTTCATCC