Canonical Allele Identifier: CA2224857254

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964160_57964161delinsGC , CM000678.2:g.57964160_57964161delinsGC	GRCh38
NC_000016.9:g.57998064_57998065delinsGC , CM000678.1:g.57998064_57998065delinsGC	GRCh37
NC_000016.8:g.56555565_56555566delinsGC	NCBI36
NG_016351.1:g.11956_11957delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.259_260delinsGC MANE Select	ENSP00000251102.8:p.Ala87=
ENST00000251102.12:c.259_260delinsGC	ENSP00000251102.8:p.Ala87=
ENST00000311183.8:c.259_260delinsGC	ENSP00000311670.4:p.Ala87=
ENST00000562761.1:c.259_260delinsGC	ENSP00000455708.1:p.Ala87=
ENST00000564448.5:c.259_260delinsGC	ENSP00000454633.1:p.Ala87=
ENST00000567568.1:n.317_318delinsGC
NM_001135639.1:c.259_260delinsGC	NP_001129111.1:p.Ala87=
NM_001286130.1:c.259_260delinsGC	NP_001273059.1:p.Ala87=
NM_001297.4:c.259_260delinsGC	NP_001288.3:p.Ala87=
XM_006721134.2:c.259_260delinsGC	XP_006721197.1:p.Ala87=
NM_001135639.2:c.259_260delinsGC	NP_001129111.1:p.Ala87=
NM_001286130.2:c.259_260delinsGC	NP_001273059.1:p.Ala87=
NM_001297.5:c.259_260delinsGC MANE Select	NP_001288.3:p.Ala87=