Canonical Allele Identifier: CA2513222004

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576293_86576294insTTCCTGGATTCACTTAATTCAGACAGTCATGTCTGCTTTGCTTCTGACTATCATTTGACGA , CM000670.2:g.86576293_86576294insTTCCTGGATTCACTTAATTCAGACAGTCATGTCTGCTTTGCTTCTGACTATCATTTGACGA	GRCh38
NC_000008.10:g.87588521_87588522insTTCCTGGATTCACTTAATTCAGACAGTCATGTCTGCTTTGCTTCTGACTATCATTTGACGA , CM000670.1:g.87588521_87588522insTTCCTGGATTCACTTAATTCAGACAGTCATGTCTGCTTTGCTTCTGACTATCATTTGACGA	GRCh37
NC_000008.9:g.87657637_87657638insTTCCTGGATTCACTTAATTCAGACAGTCATGTCTGCTTTGCTTCTGACTATCATTTGACGA	NCBI36
NG_016980.1:g.172384_172385insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC MANE Select	ENSP00000316605.5:n.2104-162_2104-161insGTCAAATGATAGTCAGAAGCA...
ENST00000681546.1:n.1924-162_1924-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC
ENST00000681746.1:c.*515-162_*515-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	ENSP00000505959.1:n.*515-162_*515-161insGTCAAATGATAGTCAGAAGCA...
ENST00000320005.5:c.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	ENSP00000316605.5:n.2104-162_2104-161insGTCAAATGATAGTCAGAAGCA...
ENST00000517327.5:c.276+2397_276+2398insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	ENSP00000428329.1:n.276+2397_276+2398insGTCAAATGATAGTCAGAAGCA...
NM_019098.4:c.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	NP_061971.3:n.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAG...
XM_011517138.1:c.1690-162_1690-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	XP_011515440.1:n.1690-162_1690-161insGTCAAATGATAGTCAGAAGCAAAG...
XM_011517138.2:c.1690-162_1690-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC	XP_011515440.1:n.1690-162_1690-161insGTCAAATGATAGTCAGAAGCAAAG...
NM_019098.5:c.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAGACATGACTGTCTGAATTAAGTGAATCCAGGAATC MANE Select	NP_061971.3:n.2104-162_2104-161insGTCAAATGATAGTCAGAAGCAAAGCAG...