Canonical Allele Identifier: CA658658387

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 452957
• ClinVar RCV Id: RCV000523606
• dbSNP Id: rs1555471385
• MyVariant Identifiers: chr16:g.3779616_3779687del (hg19) ; chr16:g.3729615_3729686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729620_3729691del , CM000678.2:g.3729620_3729691del	GRCh38
NC_000016.9:g.3779621_3779692del , CM000678.1:g.3779621_3779692del	GRCh37
NC_000016.8:g.3719622_3719693del	NCBI36
NG_009873.1:g.155435_155506del
NG_009873.2:g.156028_156099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5361_5432del MANE Select	ENSP00000262367.5:p.Asn1787_Arg1810del
ENST00000262367.9:c.5361_5432del	ENSP00000262367.5:p.Asn1787_Arg1810del
ENST00000382070.7:c.5247_5318del	ENSP00000371502.3:p.Asn1749_Arg1772del
NM_001079846.1:c.5247_5318del	NP_001073315.1:p.Asn1749_Arg1772del
NM_004380.2:c.5361_5432del	NP_004371.2:p.Asn1787_Arg1810del
XM_005255124.3:c.5316_5387del	XP_005255181.1:p.Asn1772_Arg1795del
XM_005255125.3:c.4944_5015del	XP_005255182.1:p.Asn1648_Arg1671del
XM_006720848.2:c.5100_5171del	XP_006720911.1:p.Asn1700_Arg1723del
XM_011522380.1:c.5307_5378del	XP_011520682.1:p.Asn1769_Arg1792del
XM_011522381.1:c.4608_4679del	XP_011520683.1:p.Asn1536_Arg1559del
XM_005255124.4:c.5316_5387del	XP_005255181.1:p.Asn1772_Arg1795del
XM_005255125.4:c.4944_5015del	XP_005255182.1:p.Asn1648_Arg1671del
XM_006720848.3:c.5100_5171del	XP_006720911.1:p.Asn1700_Arg1723del
XM_011522381.2:c.4608_4679del	XP_011520683.1:p.Asn1536_Arg1559del
XM_017022944.1:c.5355_5426del	XP_016878433.1:p.Asn1785_Arg1808del
NM_004380.3:c.5361_5432del MANE Select	NP_004371.2:p.Asn1787_Arg1810del