Canonical Allele Identifier: CA2601509125
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v3: 8-86575561-AT-A
gnomAD v4: 8-86575561-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575563del , CM000670.2:g.86575563del GRCh38
NC_000008.10:g.87587791del , CM000670.1:g.87587791del GRCh37
NC_000008.9:g.87656907del NCBI36
NG_016980.1:g.173114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*242del MANE Select ENSP00000316605.5:n.*242del
ENST00000681546.1:n.2492del
ENST00000681746.1:c.*1083del ENSP00000505959.1:n.*1083del
ENST00000320005.5:c.*242del ENSP00000316605.5:n.*242del
ENST00000517327.5:c.276+3127del ENSP00000428329.1:n.276+3127del
NM_019098.4:c.*242del NP_061971.3:n.*242del
XM_011517138.1:c.*242del XP_011515440.1:n.*242del
XM_011517138.2:c.*242del XP_011515440.1:n.*242del
NM_019098.5:c.*242del MANE Select NP_061971.3:n.*242del
Search 100 bp 5'
Search 100 bp 3'