Allele Registry

Canonical Allele Identifier: CA270082

Gene: CNGB1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr16:g.57904844dupT

GRCh38 chr16:g.57904843_57904844insT

GRCh37 chr16:g.57938748dupT

GRCh37 chr16:g.57938747_57938748insT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000132647

ClinVar Variation:

143125

dbSNP:

527236061

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57904844dup , CM000678.2:g.57904844dup	GRCh38
NC_000016.9:g.57938748dup , CM000678.1:g.57938748dup	GRCh37
NC_000016.8:g.56496249dup	NCBI36
NG_016351.1:g.71273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2524dup MANE Select	ENSP00000251102.8:p.Thr842AsnfsTer10
ENST00000251102.12:c.2524dup	ENSP00000251102.8:p.Thr842AsnfsTer10
ENST00000564448.5:c.2506dup	ENSP00000454633.1:p.Thr836AsnfsTer10
ENST00000569643.1:n.181dup
NM_001286130.1:c.2506dup	NP_001273059.1:p.Thr836AsnfsTer10
NM_001297.4:c.2524dup	NP_001288.3:p.Thr842AsnfsTer10
XM_006721134.2:c.2524dup	XP_006721197.1:p.Thr842AsnfsTer10
XM_011522870.1:c.1375dup	XP_011521172.1:p.Thr459AsnfsTer10
XM_011522870.2:c.1375dup	XP_011521172.1:p.Thr459AsnfsTer10
NM_001286130.2:c.2506dup	NP_001273059.1:p.Thr836AsnfsTer10
NM_001297.5:c.2524dup MANE Select	NP_001288.3:p.Thr842AsnfsTer10

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