Canonical Allele Identifier: CA2586971173
Gene: CRYGC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129563del , CM000664.2:g.208129563del GRCh38
NC_000002.11:g.208994287del , CM000664.1:g.208994287del GRCh37
NC_000002.10:g.208702532del NCBI36
NG_008038.1:g.5268del
NG_008039.1:g.27del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.130del MANE Select ENSP00000282141.3:p.Met44CysfsTer?
ENST00000282141.3:c.130del ENSP00000282141.3:p.Met44CysfsTer?
NM_020989.3:c.130del NP_066269.1:p.Met44CysfsTer?
NR_038437.1:n.98-7493del
XM_011510661.1:c.130del XP_011508963.1:p.Met44CysfsTer?
XM_011510662.1:c.130del XP_011508964.1:p.Met44CysfsTer?
XM_011510663.1:c.1del XP_011508965.1:p.Met1CysfsTer?
NM_020989.4:c.130del MANE Select NP_066269.1:p.Met44CysfsTer?