Canonical Allele Identifier: CA1799830045

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671115_86671116delinsAT , CM000670.2:g.86671115_86671116delinsAT	GRCh38
NC_000008.10:g.87683343_87683344delinsAT , CM000670.1:g.87683343_87683344delinsAT	GRCh37
NC_000008.9:g.87752459_87752460delinsAT	NCBI36
NG_016980.1:g.77560_77561delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-18_339-17delinsAT MANE Select	ENSP00000316605.5:n.339-18_339-17delinsAT
ENST00000680314.1:n.100-18_100-17delinsAT
ENST00000681746.1:c.339-18_339-17delinsAT	ENSP00000505959.1:n.339-18_339-17delinsAT
ENST00000320005.5:c.339-18_339-17delinsAT	ENSP00000316605.5:n.339-18_339-17delinsAT
NM_019098.4:c.339-18_339-17delinsAT	NP_061971.3:n.339-18_339-17delinsAT
XM_011517138.1:c.-76-18_-76-17delinsAT	XP_011515440.1:n.-76-18_-76-17delinsAT
XM_011517138.2:c.-76-18_-76-17delinsAT	XP_011515440.1:n.-76-18_-76-17delinsAT
NM_019098.5:c.339-18_339-17delinsAT MANE Select	NP_061971.3:n.339-18_339-17delinsAT