Canonical Allele Identifier: CA410605714
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43172046del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172046del , CM000683.2:g.43172046del GRCh38
NG_009823.1:g.8016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.313-25del MANE Select ENSP00000291554.2:n.313-25del
ENST00000398132.1:c.202-25del ENSP00000381200.1:n.202-25del
ENST00000398133.5:c.253-25del ENSP00000381201.1:n.253-25del
ENST00000468016.1:n.414-25del
ENST00000482775.1:n.394-25del
NM_000394.3:c.313-25del NP_000385.1:n.313-25del
XM_005261093.2:c.202-25del XP_005261150.1:n.202-25del
NM_001363766.1:c.202-25del NP_001350695.1:n.202-25del
NM_000394.4:c.313-25del MANE Select NP_000385.1:n.313-25del