Canonical Allele Identifier: CA2662869241
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129563_208129569del , CM000664.2:g.208129563_208129569del GRCh38
NC_000002.11:g.208994287_208994293del , CM000664.1:g.208994287_208994293del GRCh37
NC_000002.10:g.208702532_208702538del NCBI36
NG_008038.1:g.5266_5272del
NG_008039.1:g.25_31del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.128_134del MANE Select ENSP00000282141.3:p.Trp43SerfsTer?
ENST00000282141.3:c.128_134del ENSP00000282141.3:p.Trp43SerfsTer?
NM_020989.3:c.128_134del NP_066269.1:p.Trp43SerfsTer?
NR_038437.1:n.98-7493_98-7487del
XM_011510661.1:c.128_134del XP_011508963.1:p.Trp43SerfsTer?
XM_011510662.1:c.128_134del XP_011508964.1:p.Trp43SerfsTer?
XM_011510663.1:c.-2_5del
NM_020989.4:c.128_134del MANE Select NP_066269.1:p.Trp43SerfsTer?