Canonical Allele Identifier: CA2687823592
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575955-G-GGACT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575956_86575959dup , CM000670.2:g.86575956_86575959dup GRCh38
NC_000008.10:g.87588184_87588187dup , CM000670.1:g.87588184_87588187dup GRCh37
NC_000008.9:g.87657300_87657303dup NCBI36
NG_016980.1:g.172717_172720dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2275_2278dup MANE Select ENSP00000316605.5:p.Pro760GlnfsTer13
ENST00000681546.1:n.2095_2098dup
ENST00000681746.1:c.*686_*689dup ENSP00000505959.1:n.*686_*689dup
ENST00000320005.5:c.2275_2278dup ENSP00000316605.5:p.Pro760GlnfsTer13
ENST00000517327.5:c.276+2730_276+2733dup ENSP00000428329.1:n.276+2730_276+2733dup
NM_019098.4:c.2275_2278dup NP_061971.3:p.Pro760GlnfsTer13
XM_011517138.1:c.1861_1864dup XP_011515440.1:p.Pro622GlnfsTer13
XM_011517138.2:c.1861_1864dup XP_011515440.1:p.Pro622GlnfsTer13
NM_019098.5:c.2275_2278dup MANE Select NP_061971.3:p.Pro760GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'