Canonical Allele Identifier: CA1139657648

Gene: CRYGC

Linked Data

• ClinVar Variation Id: 16944
• ClinVar RCV Id: RCV000018453
• dbSNP Id: rs1695062782

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129570_208129574dup , CM000664.2:g.208129570_208129574dup	GRCh38
NC_000002.11:g.208994294_208994298dup , CM000664.1:g.208994294_208994298dup	GRCh37
NC_000002.10:g.208702539_208702543dup	NCBI36
NG_008038.1:g.5257_5261dup
NG_008039.1:g.16_20dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.119_123dup MANE Select	ENSP00000282141.3:p.Cys42AlafsTer?
ENST00000282141.3:c.119_123dup	ENSP00000282141.3:p.Cys42AlafsTer?
NM_020989.3:c.119_123dup	NP_066269.1:p.Cys42AlafsTer?
NR_038437.1:n.98-7486_98-7482dup
XM_011510661.1:c.119_123dup	XP_011508963.1:p.Cys42AlafsTer?
XM_011510662.1:c.119_123dup	XP_011508964.1:p.Cys42AlafsTer?
XM_011510663.1:c.-11_-7dup	XP_011508965.1:n.-11_-7dup
NM_020989.4:c.119_123dup MANE Select	NP_066269.1:p.Cys42AlafsTer?