Canonical Allele Identifier: CA2695230238

Gene: CRYAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172108_43172110del , CM000683.2:g.43172108_43172110del	GRCh38
NG_009823.1:g.8078_8080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.350_352del MANE Select	ENSP00000291554.2:p.Arg117_Tyr118delinsHis
ENST00000398132.1:c.239_241del	ENSP00000381200.1:p.Arg80_Tyr81delinsHis
ENST00000398133.5:c.290_292del	ENSP00000381201.1:p.Arg97_Tyr98delinsHis
ENST00000468016.1:n.451_453del
ENST00000482775.1:n.431_433del
NM_000394.3:c.350_352del	NP_000385.1:p.Arg117_Tyr118delinsHis
XM_005261093.2:c.239_241del	XP_005261150.1:p.Arg80_Tyr81delinsHis
NM_001363766.1:c.239_241del	NP_001350695.1:p.Arg80_Tyr81delinsHis
NM_000394.4:c.350_352del MANE Select	NP_000385.1:p.Arg117_Tyr118delinsHis