Canonical Allele Identifier: CA1799784524

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576051_86576055delinsTTTTG , CM000670.2:g.86576051_86576055delinsTTTTG	GRCh38
NC_000008.10:g.87588279_87588283delinsTTTTG , CM000670.1:g.87588279_87588283delinsTTTTG	GRCh37
NC_000008.9:g.87657395_87657399delinsTTTTG	NCBI36
NG_016980.1:g.172621_172625delinsCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2179_2183delinsCAAAA MANE Select	ENSP00000316605.5:p.Gln727=
ENST00000681546.1:n.1999_2003delinsCAAAA
ENST00000681746.1:c.*590_*594delinsCAAAA	ENSP00000505959.1:n.*590_*594delinsCAAAA
ENST00000320005.5:c.2179_2183delinsCAAAA	ENSP00000316605.5:p.Gln727=
ENST00000517327.5:c.276+2634_276+2638delinsCAAAA	ENSP00000428329.1:n.276+2634_276+2638delinsCAAAA
NM_019098.4:c.2179_2183delinsCAAAA	NP_061971.3:p.Gln727=
XM_011517138.1:c.1765_1769delinsCAAAA	XP_011515440.1:p.Gln589=
XM_011517138.2:c.1765_1769delinsCAAAA	XP_011515440.1:p.Gln589=
NM_019098.5:c.2179_2183delinsCAAAA MANE Select	NP_061971.3:p.Gln727=