Canonical Allele Identifier: CA2654731598

Gene: CRYAA

Linked Data

• gnomAD v4: 21-43169482-A-ATATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43169482_43169483insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG , CM000683.2:g.43169482_43169483insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG	GRCh38
NG_009823.1:g.5452_5453insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.189+194_189+195insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG MANE Select	ENSP00000291554.2:n.189+194_189+195insTATTGTTTATAAGTAAGTCTGTG...
ENST00000482775.1:n.203-51_203-50insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG
NM_000394.3:c.189+194_189+195insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG	NP_000385.1:n.189+194_189+195insTATTGTTTATAAGTAAGTCTGTGCTTGGC...
XR_001755073.1:n.647+1554_647+1555insCAGGCATGCCAAGCACAGACTTACTTATAAACAATA
NM_000394.4:c.189+194_189+195insTATTGTTTATAAGTAAGTCTGTGCTTGGCATGCCTG MANE Select	NP_000385.1:n.189+194_189+195insTATTGTTTATAAGTAAGTCTGTGCTTGGC...