Canonical Allele Identifier: CA1799830087

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671137_86671138delinsGA , CM000670.2:g.86671137_86671138delinsGA	GRCh38
NC_000008.10:g.87683365_87683366delinsGA , CM000670.1:g.87683365_87683366delinsGA	GRCh37
NC_000008.9:g.87752481_87752482delinsGA	NCBI36
NG_016980.1:g.77538_77539delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-40_339-39delinsTC MANE Select	ENSP00000316605.5:n.339-40_339-39delinsTC
ENST00000680314.1:n.100-40_100-39delinsTC
ENST00000681746.1:c.339-40_339-39delinsTC	ENSP00000505959.1:n.339-40_339-39delinsTC
ENST00000320005.5:c.339-40_339-39delinsTC	ENSP00000316605.5:n.339-40_339-39delinsTC
NM_019098.4:c.339-40_339-39delinsTC	NP_061971.3:n.339-40_339-39delinsTC
XM_011517138.1:c.-76-40_-76-39delinsTC	XP_011515440.1:n.-76-40_-76-39delinsTC
XM_011517138.2:c.-76-40_-76-39delinsTC	XP_011515440.1:n.-76-40_-76-39delinsTC
NM_019098.5:c.339-40_339-39delinsTC MANE Select	NP_061971.3:n.339-40_339-39delinsTC