Canonical Allele Identifier: CA1799784398

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576012_86576033delinsTCTTTATCTTCATTTTCTTTTC , CM000670.2:g.86576012_86576033delinsTCTTTATCTTCATTTTCTTTTC	GRCh38
NC_000008.10:g.87588240_87588261delinsTCTTTATCTTCATTTTCTTTTC , CM000670.1:g.87588240_87588261delinsTCTTTATCTTCATTTTCTTTTC	GRCh37
NC_000008.9:g.87657356_87657377delinsTCTTTATCTTCATTTTCTTTTC	NCBI36
NG_016980.1:g.172643_172664delinsGAAAAGAAAATGAAGATAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2201_2222delinsGAAAAGAAAATGAAGATAAAGA MANE Select	ENSP00000316605.5:p.Gly734=
ENST00000681546.1:n.2021_2042delinsGAAAAGAAAATGAAGATAAAGA
ENST00000681746.1:c.*612_*633delinsGAAAAGAAAATGAAGATAAAGA	ENSP00000505959.1:n.*612_*633delinsGAAAAGAAAATGAAGATAAAGA
ENST00000320005.5:c.2201_2222delinsGAAAAGAAAATGAAGATAAAGA	ENSP00000316605.5:p.Gly734=
ENST00000517327.5:c.276+2656_276+2677delinsGAAAAGAAAATGAAGATAAAGA	ENSP00000428329.1:n.276+2656_276+2677delinsGAAAAGAAAATGAAGATA...
NM_019098.4:c.2201_2222delinsGAAAAGAAAATGAAGATAAAGA	NP_061971.3:p.Gly734=
XM_011517138.1:c.1787_1808delinsGAAAAGAAAATGAAGATAAAGA	XP_011515440.1:p.Gly596=
XM_011517138.2:c.1787_1808delinsGAAAAGAAAATGAAGATAAAGA	XP_011515440.1:p.Gly596=
NM_019098.5:c.2201_2222delinsGAAAAGAAAATGAAGATAAAGA MANE Select	NP_061971.3:p.Gly734=