Canonical Allele Identifier: CA2506751758
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633132_86633133insGAGAAAGAAAATCTTGATTAGTAGG , CM000670.2:g.86633132_86633133insGAGAAAGAAAATCTTGATTAGTAGG GRCh38
NC_000008.10:g.87645360_87645361insGAGAAAGAAAATCTTGATTAGTAGG , CM000670.1:g.87645360_87645361insGAGAAAGAAAATCTTGATTAGTAGG GRCh37
NC_000008.9:g.87714476_87714477insGAGAAAGAAAATCTTGATTAGTAGG NCBI36
NG_016980.1:g.115543_115544insCCTACTAATCAAGATTTTCTTTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC MANE Select ENSP00000316605.5:n.1179-240_1179-239insCCTACTAATCAAGATTTTCTT...
ENST00000681546.1:n.999-240_999-239insCCTACTAATCAAGATTTTCTTTCTC
ENST00000681746.1:c.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC ENSP00000505959.1:n.1179-240_1179-239insCCTACTAATCAAGATTTTCTT...
ENST00000320005.5:c.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC ENSP00000316605.5:n.1179-240_1179-239insCCTACTAATCAAGATTTTCTT...
NM_019098.4:c.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC NP_061971.3:n.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC
XM_011517138.1:c.765-240_765-239insCCTACTAATCAAGATTTTCTTTCTC XP_011515440.1:n.765-240_765-239insCCTACTAATCAAGATTTTCTTTCTC
XM_011517138.2:c.765-240_765-239insCCTACTAATCAAGATTTTCTTTCTC XP_011515440.1:n.765-240_765-239insCCTACTAATCAAGATTTTCTTTCTC
NM_019098.5:c.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC MANE Select NP_061971.3:n.1179-240_1179-239insCCTACTAATCAAGATTTTCTTTCTC