Canonical Allele Identifier: CA2577670080
Gene: CRYBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231856_25231857del , CM000684.2:g.25231856_25231857del GRCh38
NC_000022.10:g.25627823_25627824del , CM000684.1:g.25627823_25627824del GRCh37
NC_000022.9:g.23957823_23957824del NCBI36
NG_009827.1:g.17212_17213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*84_*85del MANE Select ENSP00000381273.2:n.*84_*85del
ENST00000651629.1:c.*84_*85del ENSP00000498905.1:n.*84_*85del
ENST00000398215.2:c.*84_*85del ENSP00000381273.2:n.*84_*85del
NM_000496.2:c.*84_*85del NP_000487.1:n.*84_*85del
XM_006724141.2:c.*84_*85del XP_006724204.1:n.*84_*85del
XM_011529900.1:c.*84_*85del XP_011528202.1:n.*84_*85del
XM_011529901.1:c.*84_*85del XP_011528203.1:n.*84_*85del
XM_006724141.3:c.*84_*85del XP_006724204.1:n.*84_*85del
XM_011529900.2:c.*84_*85del XP_011528202.1:n.*84_*85del
NM_000496.3:c.*84_*85del MANE Select NP_000487.1:n.*84_*85del