Canonical Allele Identifier: CA2391131587
Gene: CRYAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172048_43172050delinsCTG , CM000683.2:g.43172048_43172050delinsCTG GRCh38
NG_009823.1:g.8018_8020delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.313-23_313-21delinsCTG MANE Select ENSP00000291554.2:n.313-23_313-21delinsCTG
ENST00000398132.1:c.202-23_202-21delinsCTG ENSP00000381200.1:n.202-23_202-21delinsCTG
ENST00000398133.5:c.253-23_253-21delinsCTG ENSP00000381201.1:n.253-23_253-21delinsCTG
ENST00000468016.1:n.414-23_414-21delinsCTG
ENST00000482775.1:n.394-23_394-21delinsCTG
NM_000394.3:c.313-23_313-21delinsCTG NP_000385.1:n.313-23_313-21delinsCTG
XM_005261093.2:c.202-23_202-21delinsCTG XP_005261150.1:n.202-23_202-21delinsCTG
NM_001363766.1:c.202-23_202-21delinsCTG NP_001350695.1:n.202-23_202-21delinsCTG
NM_000394.4:c.313-23_313-21delinsCTG MANE Select NP_000385.1:n.313-23_313-21delinsCTG