Canonical Allele Identifier: CA2695196511

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736816_3736818delinsGTGA , CM000678.2:g.3736816_3736818delinsGTGA	GRCh38
NC_000016.9:g.3786817_3786819delinsGTGA , CM000678.1:g.3786817_3786819delinsGTGA	GRCh37
NC_000016.8:g.3726818_3726820delinsGTGA	NCBI36
NG_009873.1:g.148303_148305delinsTCAC
NG_009873.2:g.148896_148898delinsTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-3_4395-1delinsTCAC MANE Select	ENSP00000262367.5:n.4395-3_4395-1delinsTCAC
ENST00000262367.9:c.4395-3_4395-1delinsTCAC	ENSP00000262367.5:n.4395-3_4395-1delinsTCAC
ENST00000382070.7:c.4281-3_4281-1delinsTCAC	ENSP00000371502.3:n.4281-3_4281-1delinsTCAC
ENST00000570939.2:c.3030-3_3030-1delinsTCAC	ENSP00000461002.2:n.3030-3_3030-1delinsTCAC
ENST00000571763.5:n.182_184delinsTCAC
ENST00000574740.1:n.216-3_216-1delinsTCAC
ENST00000576720.1:n.3218-3_3218-1delinsTCAC
NM_001079846.1:c.4281-3_4281-1delinsTCAC	NP_001073315.1:n.4281-3_4281-1delinsTCAC
NM_004380.2:c.4395-3_4395-1delinsTCAC	NP_004371.2:n.4395-3_4395-1delinsTCAC
XM_005255124.3:c.4350-3_4350-1delinsTCAC	XP_005255181.1:n.4350-3_4350-1delinsTCAC
XM_005255125.3:c.3978-3_3978-1delinsTCAC	XP_005255182.1:n.3978-3_3978-1delinsTCAC
XM_006720848.2:c.4134-3_4134-1delinsTCAC	XP_006720911.1:n.4134-3_4134-1delinsTCAC
XM_011522380.1:c.4341-3_4341-1delinsTCAC	XP_011520682.1:n.4341-3_4341-1delinsTCAC
XM_011522381.1:c.3642-3_3642-1delinsTCAC	XP_011520683.1:n.3642-3_3642-1delinsTCAC
XM_005255124.4:c.4350-3_4350-1delinsTCAC	XP_005255181.1:n.4350-3_4350-1delinsTCAC
XM_005255125.4:c.3978-3_3978-1delinsTCAC	XP_005255182.1:n.3978-3_3978-1delinsTCAC
XM_006720848.3:c.4134-3_4134-1delinsTCAC	XP_006720911.1:n.4134-3_4134-1delinsTCAC
XM_011522381.2:c.3642-3_3642-1delinsTCAC	XP_011520683.1:n.3642-3_3642-1delinsTCAC
XM_017022944.1:c.4389-3_4389-1delinsTCAC	XP_016878433.1:n.4389-3_4389-1delinsTCAC
NM_004380.3:c.4395-3_4395-1delinsTCAC MANE Select	NP_004371.2:n.4395-3_4395-1delinsTCAC