Canonical Allele Identifier: CA696386606
Gene: CRYL1 HGNC NCBI

Linked Data

dbSNP Id: rs1442570824

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20476353_20476354del , CM000675.2:g.20476353_20476354del GRCh38
NC_000013.10:g.21050492_21050493del , CM000675.1:g.21050492_21050493del GRCh37
NC_000013.9:g.19948492_19948493del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000298248.12:c.276+13018_276+13019del MANE Select ENSP00000298248.7:n.276+13018_276+13019del
ENST00000643035.1:c.*77+519_*77+520del ENSP00000496154.1:n.*77+519_*77+520del
ENST00000643750.1:c.210+13018_210+13019del ENSP00000493818.1:n.210+13018_210+13019del
ENST00000643887.1:c.276+13018_276+13019del ENSP00000495342.1:n.276+13018_276+13019del
ENST00000644153.1:c.277-3278_277-3277del ENSP00000494794.1:n.277-3278_277-3277del
ENST00000644167.1:c.276+13018_276+13019del ENSP00000494114.1:n.276+13018_276+13019del
ENST00000644593.1:c.276+13018_276+13019del ENSP00000493784.1:n.276+13018_276+13019del
ENST00000644872.1:n.233+13018_233+13019del
ENST00000298248.11:c.276+13018_276+13019del ENSP00000298248.7:n.276+13018_276+13019del
ENST00000382812.5:c.210+13018_210+13019del ENSP00000372262.1:n.210+13018_210+13019del
ENST00000480748.2:c.67+13018_67+13019del
NM_015974.2:c.276+13018_276+13019del NP_057058.2:n.276+13018_276+13019del
XM_005266415.2:c.276+13018_276+13019del XP_005266472.1:n.276+13018_276+13019del
XM_005266416.3:c.276+13018_276+13019del XP_005266473.1:n.276+13018_276+13019del
XM_011535100.1:c.276+13018_276+13019del XP_011533402.1:n.276+13018_276+13019del
XM_011535101.1:c.276+13018_276+13019del XP_011533403.1:n.276+13018_276+13019del
NM_001363647.1:c.276+13018_276+13019del NP_001350576.1:n.276+13018_276+13019del
XM_005266416.5:c.276+13018_276+13019del XP_005266473.1:n.276+13018_276+13019del
XM_017020624.1:c.-88-3278_-88-3277del XP_016876113.1:n.-88-3278_-88-3277del
NM_015974.3:c.276+13018_276+13019del MANE Select NP_057058.2:n.276+13018_276+13019del
NM_001363647.2:c.276+13018_276+13019del NP_001350576.1:n.276+13018_276+13019del