Canonical Allele Identifier: CA915949063

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694792
• ClinVar RCV Id: RCV000856885
• dbSNP Id: rs1596784713

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728918_3728942del , CM000678.2:g.3728918_3728942del	GRCh38
NC_000016.9:g.3778919_3778943del , CM000678.1:g.3778919_3778943del	GRCh37
NC_000016.8:g.3718920_3718944del	NCBI36
NG_009873.1:g.156187_156211del
NG_009873.2:g.156780_156804del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6113_6137del MANE Select	ENSP00000262367.5:p.Pro2038ArgfsTer29
ENST00000262367.9:c.6113_6137del	ENSP00000262367.5:p.Pro2038ArgfsTer29
ENST00000382070.7:c.5999_6023del	ENSP00000371502.3:p.Pro2000ArgfsTer29
NM_001079846.1:c.5999_6023del	NP_001073315.1:p.Pro2000ArgfsTer29
NM_004380.2:c.6113_6137del	NP_004371.2:p.Pro2038ArgfsTer29
XM_005255124.3:c.6068_6092del	XP_005255181.1:p.Pro2023ArgfsTer29
XM_005255125.3:c.5696_5720del	XP_005255182.1:p.Pro1899ArgfsTer29
XM_006720848.2:c.5852_5876del	XP_006720911.1:p.Pro1951ArgfsTer29
XM_011522380.1:c.6059_6083del	XP_011520682.1:p.Pro2020ArgfsTer29
XM_011522381.1:c.5360_5384del	XP_011520683.1:p.Pro1787ArgfsTer29
XM_005255124.4:c.6068_6092del	XP_005255181.1:p.Pro2023ArgfsTer29
XM_005255125.4:c.5696_5720del	XP_005255182.1:p.Pro1899ArgfsTer29
XM_006720848.3:c.5852_5876del	XP_006720911.1:p.Pro1951ArgfsTer29
XM_011522381.2:c.5360_5384del	XP_011520683.1:p.Pro1787ArgfsTer29
XM_017022944.1:c.6107_6131del	XP_016878433.1:p.Pro2036ArgfsTer29
NM_004380.3:c.6113_6137del MANE Select	NP_004371.2:p.Pro2038ArgfsTer29