Canonical Allele Identifier: CA2580091133

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2019616
• ClinVar RCV Id: RCV002851952

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728810_3728811del , CM000678.2:g.3728810_3728811del	GRCh38
NC_000016.9:g.3778811_3778812del , CM000678.1:g.3778811_3778812del	GRCh37
NC_000016.8:g.3718812_3718813del	NCBI36
NG_009873.1:g.156312_156313del
NG_009873.2:g.156905_156906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6238_6239del MANE Select	ENSP00000262367.5:p.Pro2080SerfsTer?
ENST00000262367.9:c.6238_6239del	ENSP00000262367.5:p.Pro2080SerfsTer?
ENST00000382070.7:c.6124_6125del	ENSP00000371502.3:p.Pro2042SerfsTer?
NM_001079846.1:c.6124_6125del	NP_001073315.1:p.Pro2042SerfsTer?
NM_004380.2:c.6238_6239del	NP_004371.2:p.Pro2080SerfsTer?
XM_005255124.3:c.6193_6194del	XP_005255181.1:p.Pro2065SerfsTer?
XM_005255125.3:c.5821_5822del	XP_005255182.1:p.Pro1941SerfsTer?
XM_006720848.2:c.5977_5978del	XP_006720911.1:p.Pro1993SerfsTer?
XM_011522380.1:c.6184_6185del	XP_011520682.1:p.Pro2062SerfsTer?
XM_011522381.1:c.5485_5486del	XP_011520683.1:p.Pro1829SerfsTer?
XM_005255124.4:c.6193_6194del	XP_005255181.1:p.Pro2065SerfsTer?
XM_005255125.4:c.5821_5822del	XP_005255182.1:p.Pro1941SerfsTer?
XM_006720848.3:c.5977_5978del	XP_006720911.1:p.Pro1993SerfsTer?
XM_011522381.2:c.5485_5486del	XP_011520683.1:p.Pro1829SerfsTer?
XM_017022944.1:c.6232_6233del	XP_016878433.1:p.Pro2078SerfsTer?
NM_004380.3:c.6238_6239del MANE Select	NP_004371.2:p.Pro2080SerfsTer?