Canonical Allele Identifier: CA2579199842

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575793_86575794del , CM000670.2:g.86575793_86575794del	GRCh38
NC_000008.10:g.87588021_87588022del , CM000670.1:g.87588021_87588022del	GRCh37
NC_000008.9:g.87657137_87657138del	NCBI36
NG_016980.1:g.172883_172884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*11_*12del MANE Select	ENSP00000316605.5:n.*11_*12del
ENST00000681546.1:n.2261_2262del
ENST00000681746.1:c.*852_*853del	ENSP00000505959.1:n.*852_*853del
ENST00000320005.5:c.*11_*12del	ENSP00000316605.5:n.*11_*12del
ENST00000517327.5:c.276+2896_276+2897del	ENSP00000428329.1:n.276+2896_276+2897del
NM_019098.4:c.*11_*12del	NP_061971.3:n.*11_*12del
XM_011517138.1:c.*11_*12del	XP_011515440.1:n.*11_*12del
XM_011517138.2:c.*11_*12del	XP_011515440.1:n.*11_*12del
NM_019098.5:c.*11_*12del MANE Select	NP_061971.3:n.*11_*12del