Canonical Allele Identifier: CA749588256

Gene: CRYAA

Linked Data

• dbSNP Id: rs1200648029
• MyVariant Identifiers: chr21:g.43172049_43172050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172051_43172052del , CM000683.2:g.43172051_43172052del	GRCh38
NG_009823.1:g.8021_8022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.313-20_313-19del MANE Select	ENSP00000291554.2:n.313-20_313-19del
ENST00000398132.1:c.202-20_202-19del	ENSP00000381200.1:n.202-20_202-19del
ENST00000398133.5:c.253-20_253-19del	ENSP00000381201.1:n.253-20_253-19del
ENST00000468016.1:n.414-20_414-19del
ENST00000482775.1:n.394-20_394-19del
NM_000394.3:c.313-20_313-19del	NP_000385.1:n.313-20_313-19del
XM_005261093.2:c.202-20_202-19del	XP_005261150.1:n.202-20_202-19del
NM_001363766.1:c.202-20_202-19del	NP_001350695.1:n.202-20_202-19del
NM_000394.4:c.313-20_313-19del MANE Select	NP_000385.1:n.313-20_313-19del