Canonical Allele Identifier: CA2781154193

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576045_86576046insAGA , CM000670.2:g.86576045_86576046insAGA	GRCh38
NC_000008.10:g.87588273_87588274insAGA , CM000670.1:g.87588273_87588274insAGA	GRCh37
NC_000008.9:g.87657389_87657390insAGA	NCBI36
NG_016980.1:g.172630_172631insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2188_2189insTCT MANE Select	ENSP00000316605.5:p.Asn730delinsIleTyr
ENST00000681546.1:n.2008_2009insTCT
ENST00000681746.1:c.*599_*600insTCT	ENSP00000505959.1:n.*599_*600insTCT
ENST00000320005.5:c.2188_2189insTCT	ENSP00000316605.5:p.Asn730delinsIleTyr
ENST00000517327.5:c.276+2643_276+2644insTCT	ENSP00000428329.1:n.276+2643_276+2644insTCT
NM_019098.4:c.2188_2189insTCT	NP_061971.3:p.Asn730delinsIleTyr
XM_011517138.1:c.1774_1775insTCT	XP_011515440.1:p.Asn592delinsIleTyr
XM_011517138.2:c.1774_1775insTCT	XP_011515440.1:p.Asn592delinsIleTyr
NM_019098.5:c.2188_2189insTCT MANE Select	NP_061971.3:p.Asn730delinsIleTyr