Canonical Allele Identifier: CA2687827938
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739629_86739630insC , CM000670.2:g.86739629_86739630insC GRCh38
NC_000008.10:g.87751857_87751858insC , CM000670.1:g.87751857_87751858insC GRCh37
NC_000008.9:g.87820973_87820974insC NCBI36
NG_016980.1:g.9046_9047insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+25_211+26insG MANE Select ENSP00000316605.5:n.211+25_211+26insG
ENST00000681746.1:c.211+25_211+26insG ENSP00000505959.1:n.211+25_211+26insG
ENST00000320005.5:c.211+25_211+26insG ENSP00000316605.5:n.211+25_211+26insG
ENST00000519777.1:n.193+25_193+26insG
NM_019098.4:c.211+25_211+26insG NP_061971.3:n.211+25_211+26insG
NM_019098.5:c.211+25_211+26insG MANE Select NP_061971.3:n.211+25_211+26insG