Canonical Allele Identifier: CA2202936762

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736839_3736840delinsCA , CM000678.2:g.3736839_3736840delinsCA	GRCh38
NC_000016.9:g.3786840_3786841delinsCA , CM000678.1:g.3786840_3786841delinsCA	GRCh37
NC_000016.8:g.3726841_3726842delinsCA	NCBI36
NG_009873.1:g.148281_148282delinsTG
NG_009873.2:g.148874_148875delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-25_4395-24delinsTG MANE Select	ENSP00000262367.5:n.4395-25_4395-24delinsTG
ENST00000262367.9:c.4395-25_4395-24delinsTG	ENSP00000262367.5:n.4395-25_4395-24delinsTG
ENST00000382070.7:c.4281-25_4281-24delinsTG	ENSP00000371502.3:n.4281-25_4281-24delinsTG
ENST00000570939.2:c.3030-25_3030-24delinsTG	ENSP00000461002.2:n.3030-25_3030-24delinsTG
ENST00000571763.5:n.160_161delinsTG
ENST00000574740.1:n.216-25_216-24delinsTG
ENST00000576720.1:n.3218-25_3218-24delinsTG
NM_001079846.1:c.4281-25_4281-24delinsTG	NP_001073315.1:n.4281-25_4281-24delinsTG
NM_004380.2:c.4395-25_4395-24delinsTG	NP_004371.2:n.4395-25_4395-24delinsTG
XM_005255124.3:c.4350-25_4350-24delinsTG	XP_005255181.1:n.4350-25_4350-24delinsTG
XM_005255125.3:c.3978-25_3978-24delinsTG	XP_005255182.1:n.3978-25_3978-24delinsTG
XM_006720848.2:c.4134-25_4134-24delinsTG	XP_006720911.1:n.4134-25_4134-24delinsTG
XM_011522380.1:c.4341-25_4341-24delinsTG	XP_011520682.1:n.4341-25_4341-24delinsTG
XM_011522381.1:c.3642-25_3642-24delinsTG	XP_011520683.1:n.3642-25_3642-24delinsTG
XM_005255124.4:c.4350-25_4350-24delinsTG	XP_005255181.1:n.4350-25_4350-24delinsTG
XM_005255125.4:c.3978-25_3978-24delinsTG	XP_005255182.1:n.3978-25_3978-24delinsTG
XM_006720848.3:c.4134-25_4134-24delinsTG	XP_006720911.1:n.4134-25_4134-24delinsTG
XM_011522381.2:c.3642-25_3642-24delinsTG	XP_011520683.1:n.3642-25_3642-24delinsTG
XM_017022944.1:c.4389-25_4389-24delinsTG	XP_016878433.1:n.4389-25_4389-24delinsTG
NM_004380.3:c.4395-25_4395-24delinsTG MANE Select	NP_004371.2:n.4395-25_4395-24delinsTG