Canonical Allele Identifier: CA2781156269

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668220_86668228del , CM000670.2:g.86668220_86668228del	GRCh38
NC_000008.10:g.87680448_87680456del , CM000670.1:g.87680448_87680456del	GRCh37
NC_000008.9:g.87749564_87749572del	NCBI36
NG_016980.1:g.80448_80456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.494-60_494-52del MANE Select	ENSP00000316605.5:n.494-60_494-52del
ENST00000680314.1:n.255-60_255-52del
ENST00000681746.1:c.494-60_494-52del	ENSP00000505959.1:n.494-60_494-52del
ENST00000320005.5:c.494-60_494-52del	ENSP00000316605.5:n.494-60_494-52del
NM_019098.4:c.494-60_494-52del	NP_061971.3:n.494-60_494-52del
XM_011517138.1:c.80-60_80-52del	XP_011515440.1:n.80-60_80-52del
XM_011517138.2:c.80-60_80-52del	XP_011515440.1:n.80-60_80-52del
NM_019098.5:c.494-60_494-52del MANE Select	NP_061971.3:n.494-60_494-52del