Canonical Allele Identifier: CA2781149787
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632919_86632920insA , CM000670.2:g.86632919_86632920insA GRCh38
NC_000008.10:g.87645147_87645148insA , CM000670.1:g.87645147_87645148insA GRCh37
NC_000008.9:g.87714263_87714264insA NCBI36
NG_016980.1:g.115756_115757insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-27_1179-26insT MANE Select ENSP00000316605.5:n.1179-27_1179-26insT
ENST00000681546.1:n.999-27_999-26insT
ENST00000681746.1:c.1179-27_1179-26insT ENSP00000505959.1:n.1179-27_1179-26insT
ENST00000320005.5:c.1179-27_1179-26insT ENSP00000316605.5:n.1179-27_1179-26insT
NM_019098.4:c.1179-27_1179-26insT NP_061971.3:n.1179-27_1179-26insT
XM_011517138.1:c.765-27_765-26insT XP_011515440.1:n.765-27_765-26insT
XM_011517138.2:c.765-27_765-26insT XP_011515440.1:n.765-27_765-26insT
NM_019098.5:c.1179-27_1179-26insT MANE Select NP_061971.3:n.1179-27_1179-26insT