Canonical Allele Identifier: CA1799785035

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576235_86576237delinsGTC , CM000670.2:g.86576235_86576237delinsGTC	GRCh38
NC_000008.10:g.87588463_87588465delinsGTC , CM000670.1:g.87588463_87588465delinsGTC	GRCh37
NC_000008.9:g.87657579_87657581delinsGTC	NCBI36
NG_016980.1:g.172439_172441delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-107_2104-105delinsGAC MANE Select	ENSP00000316605.5:n.2104-107_2104-105delinsGAC
ENST00000681546.1:n.1924-107_1924-105delinsGAC
ENST00000681746.1:c.*515-107_*515-105delinsGAC	ENSP00000505959.1:n.*515-107_*515-105delinsGAC
ENST00000320005.5:c.2104-107_2104-105delinsGAC	ENSP00000316605.5:n.2104-107_2104-105delinsGAC
ENST00000517327.5:c.276+2452_276+2454delinsGAC	ENSP00000428329.1:n.276+2452_276+2454delinsGAC
NM_019098.4:c.2104-107_2104-105delinsGAC	NP_061971.3:n.2104-107_2104-105delinsGAC
XM_011517138.1:c.1690-107_1690-105delinsGAC	XP_011515440.1:n.1690-107_1690-105delinsGAC
XM_011517138.2:c.1690-107_1690-105delinsGAC	XP_011515440.1:n.1690-107_1690-105delinsGAC
NM_019098.5:c.2104-107_2104-105delinsGAC MANE Select	NP_061971.3:n.2104-107_2104-105delinsGAC