Canonical Allele Identifier: CA1799784368

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576006_86576012delinsCCTTTAT , CM000670.2:g.86576006_86576012delinsCCTTTAT	GRCh38
NC_000008.10:g.87588234_87588240delinsCCTTTAT , CM000670.1:g.87588234_87588240delinsCCTTTAT	GRCh37
NC_000008.9:g.87657350_87657356delinsCCTTTAT	NCBI36
NG_016980.1:g.172664_172670delinsATAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2222_2228delinsATAAAGG MANE Select	ENSP00000316605.5:p.Asp741=
ENST00000681546.1:n.2042_2048delinsATAAAGG
ENST00000681746.1:c.*633_*639delinsATAAAGG	ENSP00000505959.1:n.*633_*639delinsATAAAGG
ENST00000320005.5:c.2222_2228delinsATAAAGG	ENSP00000316605.5:p.Asp741=
ENST00000517327.5:c.276+2677_276+2683delinsATAAAGG	ENSP00000428329.1:n.276+2677_276+2683delinsATAAAGG
NM_019098.4:c.2222_2228delinsATAAAGG	NP_061971.3:p.Asp741=
XM_011517138.1:c.1808_1814delinsATAAAGG	XP_011515440.1:p.Asp603=
XM_011517138.2:c.1808_1814delinsATAAAGG	XP_011515440.1:p.Asp603=
NM_019098.5:c.2222_2228delinsATAAAGG MANE Select	NP_061971.3:p.Asp741=