Canonical Allele Identifier: CA2654731602

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169489-G-GCTCCCTTGTCCACCCTCTCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169489_43169490insCTCCCTTGTCCACCCTCTCCCCA , CM000683.2:g.43169489_43169490insCTCCCTTGTCCACCCTCTCCCCA	GRCh38
NG_009823.1:g.5459_5460insCTCCCTTGTCCACCCTCTCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA MANE Select	ENSP00000291554.2:n.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA...
ENST00000482775.1:n.203-44_203-43insCTCCCTTGTCCACCCTCTCCCCA
NM_000394.3:c.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA	NP_000385.1:n.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA
XR_001755073.1:n.647+1547_647+1548insTGGGGAGAGGGTGGACAAGGGAG
NM_000394.4:c.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA MANE Select	NP_000385.1:n.189+201_189+202insCTCCCTTGTCCACCCTCTCCCCA