Canonical Allele Identifier: CA645575162

Gene: CREBBP

Linked Data

• COSMIC: COSM4595334

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729766_3729785del , CM000678.2:g.3729766_3729785del	GRCh38
NC_000016.9:g.3779767_3779786del , CM000678.1:g.3779767_3779786del	GRCh37
NC_000016.8:g.3719768_3719787del	NCBI36
NG_009873.1:g.155338_155357del
NG_009873.2:g.155931_155950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5264_5283del MANE Select	ENSP00000262367.5:p.Ser1755LysfsTer?
ENST00000262367.9:c.5264_5283del	ENSP00000262367.5:p.Ser1755LysfsTer?
ENST00000382070.7:c.5150_5169del	ENSP00000371502.3:p.Ser1717LysfsTer?
NM_001079846.1:c.5150_5169del	NP_001073315.1:p.Ser1717LysfsTer?
NM_004380.2:c.5264_5283del	NP_004371.2:p.Ser1755LysfsTer?
XM_005255124.3:c.5219_5238del	XP_005255181.1:p.Ser1740LysfsTer?
XM_005255125.3:c.4847_4866del	XP_005255182.1:p.Ser1616LysfsTer?
XM_006720848.2:c.5003_5022del	XP_006720911.1:p.Ser1668LysfsTer?
XM_011522380.1:c.5210_5229del	XP_011520682.1:p.Ser1737LysfsTer?
XM_011522381.1:c.4511_4530del	XP_011520683.1:p.Ser1504LysfsTer?
XM_005255124.4:c.5219_5238del	XP_005255181.1:p.Ser1740LysfsTer?
XM_005255125.4:c.4847_4866del	XP_005255182.1:p.Ser1616LysfsTer?
XM_006720848.3:c.5003_5022del	XP_006720911.1:p.Ser1668LysfsTer?
XM_011522381.2:c.4511_4530del	XP_011520683.1:p.Ser1504LysfsTer?
XM_017022944.1:c.5258_5277del	XP_016878433.1:p.Ser1753LysfsTer?
NM_004380.3:c.5264_5283del MANE Select	NP_004371.2:p.Ser1755LysfsTer?