Canonical Allele Identifier: CA2202916442

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051853359

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729532_3729533insAAAACAAAT , CM000678.2:g.3729532_3729533insAAAACAAAT	GRCh38
NC_000016.9:g.3779533_3779534insAAAACAAAT , CM000678.1:g.3779533_3779534insAAAACAAAT	GRCh37
NC_000016.8:g.3719534_3719535insAAAACAAAT	NCBI36
NG_009873.1:g.155588_155589insATTTGTTTT
NG_009873.2:g.156181_156182insATTTGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5514_5515insATTTGTTTT MANE Select	ENSP00000262367.5:p.Cys1838_Pro1839insIleCysPhe
ENST00000262367.9:c.5514_5515insATTTGTTTT	ENSP00000262367.5:p.Cys1838_Pro1839insIleCysPhe
ENST00000382070.7:c.5400_5401insATTTGTTTT	ENSP00000371502.3:p.Cys1800_Pro1801insIleCysPhe
NM_001079846.1:c.5400_5401insATTTGTTTT	NP_001073315.1:p.Cys1800_Pro1801insIleCysPhe
NM_004380.2:c.5514_5515insATTTGTTTT	NP_004371.2:p.Cys1838_Pro1839insIleCysPhe
XM_005255124.3:c.5469_5470insATTTGTTTT	XP_005255181.1:p.Cys1823_Pro1824insIleCysPhe
XM_005255125.3:c.5097_5098insATTTGTTTT	XP_005255182.1:p.Cys1699_Pro1700insIleCysPhe
XM_006720848.2:c.5253_5254insATTTGTTTT	XP_006720911.1:p.Cys1751_Pro1752insIleCysPhe
XM_011522380.1:c.5460_5461insATTTGTTTT	XP_011520682.1:p.Cys1820_Pro1821insIleCysPhe
XM_011522381.1:c.4761_4762insATTTGTTTT	XP_011520683.1:p.Cys1587_Pro1588insIleCysPhe
XM_005255124.4:c.5469_5470insATTTGTTTT	XP_005255181.1:p.Cys1823_Pro1824insIleCysPhe
XM_005255125.4:c.5097_5098insATTTGTTTT	XP_005255182.1:p.Cys1699_Pro1700insIleCysPhe
XM_006720848.3:c.5253_5254insATTTGTTTT	XP_006720911.1:p.Cys1751_Pro1752insIleCysPhe
XM_011522381.2:c.4761_4762insATTTGTTTT	XP_011520683.1:p.Cys1587_Pro1588insIleCysPhe
XM_017022944.1:c.5508_5509insATTTGTTTT	XP_016878433.1:p.Cys1836_Pro1837insIleCysPhe
NM_004380.3:c.5514_5515insATTTGTTTT MANE Select	NP_004371.2:p.Cys1838_Pro1839insIleCysPhe