Canonical Allele Identifier: CA2781156260

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668214_86668215insA , CM000670.2:g.86668214_86668215insA	GRCh38
NC_000008.10:g.87680442_87680443insA , CM000670.1:g.87680442_87680443insA	GRCh37
NC_000008.9:g.87749558_87749559insA	NCBI36
NG_016980.1:g.80461_80462insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.494-47_494-46insT MANE Select	ENSP00000316605.5:n.494-47_494-46insT
ENST00000680314.1:n.255-47_255-46insT
ENST00000681746.1:c.494-47_494-46insT	ENSP00000505959.1:n.494-47_494-46insT
ENST00000320005.5:c.494-47_494-46insT	ENSP00000316605.5:n.494-47_494-46insT
NM_019098.4:c.494-47_494-46insT	NP_061971.3:n.494-47_494-46insT
XM_011517138.1:c.80-47_80-46insT	XP_011515440.1:n.80-47_80-46insT
XM_011517138.2:c.80-47_80-46insT	XP_011515440.1:n.80-47_80-46insT
NM_019098.5:c.494-47_494-46insT MANE Select	NP_061971.3:n.494-47_494-46insT