Canonical Allele Identifier: CA3182719412
Community Standard Title: NM_001289808.2(CRYAB):c.59_60del (p.Pro20GlnfsTer5)
Gene: CRYAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111911668_111911669del , CM000673.2:g.111911668_111911669del GRCh38
NC_000011.9:g.111782392_111782393del , CM000673.1:g.111782392_111782393del GRCh37
NC_000011.8:g.111287602_111287603del NCBI36
NG_009824.2:g.17057_17058del
NG_033080.1:g.3933_3934del
NG_009824.3:g.17057_17058del
NG_033080.2:g.3933_3934del

Transcript Alleles

HGVS Amino-acid Change
NM_001289808.2:c.59_60del MANE Select NP_001276737.1:p.Pro20GlnfsTer5
ENST00000650687.2:c.59_60del MANE Select ENSP00000499082.1:p.Pro20GlnfsTer5
NM_001289807.1:c.59_60del NP_001276736.1:p.Pro20GlnfsTer5
NM_001289808.1:c.59_60del NP_001276737.1:p.Pro20GlnfsTer5
NM_001368245.1:c.59_60del NP_001355174.1:p.Pro20GlnfsTer5
NM_001885.2:c.59_60del NP_001876.1:p.Pro20GlnfsTer5
NM_001885.3:c.59_60del NP_001876.1:p.Pro20GlnfsTer5
ENST00000227251.7:c.59_60del ENSP00000227251.3:p.Pro20GlnfsTer5
ENST00000526180.5:c.59_60del ENSP00000436051.1:p.Pro20GlnfsTer5
ENST00000526180.6:c.59_60del ENSP00000436051.1:p.Pro20GlnfsTer5
ENST00000527899.5:c.59_60del ENSP00000436089.1:p.Pro20GlnfsTer5
ENST00000527899.6:c.59_60del ENSP00000436089.2:p.Pro20GlnfsTer5
ENST00000527950.5:c.59_60del ENSP00000437149.1:p.Pro20GlnfsTer5
ENST00000528628.5:c.59_60del ENSP00000432182.1:p.Pro20GlnfsTer5
ENST00000529647.5:c.59_60del ENSP00000431754.1:p.Pro20GlnfsTer5
ENST00000531198.5:c.59_60del ENSP00000434247.1:p.Pro20GlnfsTer5
ENST00000533475.5:c.59_60del ENSP00000433560.1:p.Pro20GlnfsTer5
ENST00000533475.6:c.59_60del ENSP00000433560.1:p.Pro20GlnfsTer5
ENST00000533879.1:c.59_60del ENSP00000435931.1:p.Pro20GlnfsTer5
ENST00000533879.2:c.59_60del ENSP00000435931.2:p.Pro20GlnfsTer5
ENST00000533971.1:c.59_60del ENSP00000434269.1:p.Pro20GlnfsTer5
ENST00000533971.2:c.59_60del ENSP00000434269.1:p.Pro20GlnfsTer5
ENST00000616970.4:c.59_60del ENSP00000483554.1:p.Pro20GlnfsTer5
ENST00000616970.5:c.59_60del ENSP00000483554.1:p.Pro20GlnfsTer5
ENST00000651164.1:c.59_60del ENSP00000498735.1:p.Pro20GlnfsTer5
ENST00000652223.1:n.371_372del
ENST00000652606.1:n.303_304del
XM_011542608.1:c.59_60del XP_011540910.1:p.Pro20GlnfsTer5