Allele Registry

Canonical Allele Identifier: CA271383

Gene: CREBBP HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr16:g.3850796del

GRCh37 chr16:g.3900797del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000145733

ClinVar Variation:

158353

dbSNP:

587783477

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850798del , CM000678.2:g.3850798del	GRCh38
NC_000016.9:g.3900799del , CM000678.1:g.3900799del	GRCh37
NC_000016.8:g.3840800del	NCBI36
NG_009873.1:g.34325del
NG_009873.2:g.34918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.299del MANE Select	ENSP00000262367.5:p.Gly100ValfsTer24
ENST00000262367.9:c.299del	ENSP00000262367.5:p.Gly100ValfsTer24
ENST00000382070.7:c.299del	ENSP00000371502.3:p.Gly100ValfsTer24
NM_001079846.1:c.299del	NP_001073315.1:p.Gly100ValfsTer24
NM_004380.2:c.299del	NP_004371.2:p.Gly100ValfsTer24
XM_005255124.3:c.299del	XP_005255181.1:p.Gly100ValfsTer24
XM_005255125.3:c.299del	XP_005255182.1:p.Gly100ValfsTer24
XM_006720848.2:c.299del	XP_006720911.1:p.Gly100ValfsTer24
XM_011522380.1:c.245del	XP_011520682.1:p.Gly82ValfsTer24
XM_011522382.1:c.299del	XP_011520684.1:p.Gly100ValfsTer24
XM_005255124.4:c.299del	XP_005255181.1:p.Gly100ValfsTer24
XM_005255125.4:c.299del	XP_005255182.1:p.Gly100ValfsTer24
XM_006720848.3:c.299del	XP_006720911.1:p.Gly100ValfsTer24
XM_011522382.3:c.299del	XP_011520684.1:p.Gly100ValfsTer24
XM_017022944.1:c.299del	XP_016878433.1:p.Gly100ValfsTer24
NM_004380.3:c.299del MANE Select	NP_004371.2:p.Gly100ValfsTer24

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