Canonical Allele Identifier: CA2391131590
Gene: CRYAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172054_43172055delinsGC , CM000683.2:g.43172054_43172055delinsGC GRCh38
NG_009823.1:g.8024_8025delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.313-17_313-16delinsGC MANE Select ENSP00000291554.2:n.313-17_313-16delinsGC
ENST00000398132.1:c.202-17_202-16delinsGC ENSP00000381200.1:n.202-17_202-16delinsGC
ENST00000398133.5:c.253-17_253-16delinsGC ENSP00000381201.1:n.253-17_253-16delinsGC
ENST00000468016.1:n.414-17_414-16delinsGC
ENST00000482775.1:n.394-17_394-16delinsGC
NM_000394.3:c.313-17_313-16delinsGC NP_000385.1:n.313-17_313-16delinsGC
XM_005261093.2:c.202-17_202-16delinsGC XP_005261150.1:n.202-17_202-16delinsGC
NM_001363766.1:c.202-17_202-16delinsGC NP_001350695.1:n.202-17_202-16delinsGC
NM_000394.4:c.313-17_313-16delinsGC MANE Select NP_000385.1:n.313-17_313-16delinsGC