Canonical Allele Identifier: CA2781154172

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576015_86576016insACA , CM000670.2:g.86576015_86576016insACA	GRCh38
NC_000008.10:g.87588243_87588244insACA , CM000670.1:g.87588243_87588244insACA	GRCh37
NC_000008.9:g.87657359_87657360insACA	NCBI36
NG_016980.1:g.172660_172661insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2218_2219insTGT MANE Select	ENSP00000316605.5:p.Lys740MetfsTer2
ENST00000681546.1:n.2038_2039insTGT
ENST00000681746.1:c.*629_*630insTGT	ENSP00000505959.1:n.*629_*630insTGT
ENST00000320005.5:c.2218_2219insTGT	ENSP00000316605.5:p.Lys740MetfsTer2
ENST00000517327.5:c.276+2673_276+2674insTGT	ENSP00000428329.1:n.276+2673_276+2674insTGT
NM_019098.4:c.2218_2219insTGT	NP_061971.3:p.Lys740MetfsTer2
XM_011517138.1:c.1804_1805insTGT	XP_011515440.1:p.Lys602MetfsTer2
XM_011517138.2:c.1804_1805insTGT	XP_011515440.1:p.Lys602MetfsTer2
NM_019098.5:c.2218_2219insTGT MANE Select	NP_061971.3:p.Lys740MetfsTer2