Canonical Allele Identifier: CA2537579932

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576354_86576355insGTGGT , CM000670.2:g.86576354_86576355insGTGGT	GRCh38
NC_000008.10:g.87588582_87588583insGTGGT , CM000670.1:g.87588582_87588583insGTGGT	GRCh37
NC_000008.9:g.87657698_87657699insGTGGT	NCBI36
NG_016980.1:g.172321_172322insACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-225_2104-224insACCAC MANE Select	ENSP00000316605.5:n.2104-225_2104-224insACCAC
ENST00000681546.1:n.1924-225_1924-224insACCAC
ENST00000681746.1:c.*515-225_*515-224insACCAC	ENSP00000505959.1:n.*515-225_*515-224insACCAC
ENST00000320005.5:c.2104-225_2104-224insACCAC	ENSP00000316605.5:n.2104-225_2104-224insACCAC
ENST00000517327.5:c.276+2334_276+2335insACCAC	ENSP00000428329.1:n.276+2334_276+2335insACCAC
NM_019098.4:c.2104-225_2104-224insACCAC	NP_061971.3:n.2104-225_2104-224insACCAC
XM_011517138.1:c.1690-225_1690-224insACCAC	XP_011515440.1:n.1690-225_1690-224insACCAC
XM_011517138.2:c.1690-225_1690-224insACCAC	XP_011515440.1:n.1690-225_1690-224insACCAC
NM_019098.5:c.2104-225_2104-224insACCAC MANE Select	NP_061971.3:n.2104-225_2104-224insACCAC