Canonical Allele Identifier: CA2391130776

Gene: CRYAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169344_43169348delinsCGGTG , CM000683.2:g.43169344_43169348delinsCGGTG	GRCh38
NG_009823.1:g.5314_5318delinsCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+56_189+60delinsCGGTG MANE Select	ENSP00000291554.2:n.189+56_189+60delinsCGGTG
ENST00000482775.1:n.202+56_202+60delinsCGGTG
NM_000394.3:c.189+56_189+60delinsCGGTG	NP_000385.1:n.189+56_189+60delinsCGGTG
XR_001755073.1:n.647+1689_647+1693delinsCACCG
NM_000394.4:c.189+56_189+60delinsCGGTG MANE Select	NP_000385.1:n.189+56_189+60delinsCGGTG