Canonical Allele Identifier: CA2695222694

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792063_3792064del , CM000678.2:g.3792063_3792064del	GRCh38
NC_000016.9:g.3842064_3842065del , CM000678.1:g.3842064_3842065del	GRCh37
NC_000016.8:g.3782065_3782066del	NCBI36
NG_009873.1:g.93061_93062del
NG_009873.2:g.93654_93655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1251_1252del MANE Select	ENSP00000262367.5:p.His418LeufsTer8
ENST00000262367.9:c.1251_1252del	ENSP00000262367.5:p.His418LeufsTer8
ENST00000382070.7:c.1216+1326_1216+1327del	ENSP00000371502.3:n.1216+1326_1216+1327del
NM_001079846.1:c.1216+1326_1216+1327del	NP_001073315.1:n.1216+1326_1216+1327del
NM_004380.2:c.1251_1252del	NP_004371.2:p.His418LeufsTer8
XM_005255124.3:c.1251_1252del	XP_005255181.1:p.His418LeufsTer8
XM_005255125.3:c.1251_1252del	XP_005255182.1:p.His418LeufsTer8
XM_006720848.2:c.1251_1252del	XP_006720911.1:p.His418LeufsTer8
XM_011522380.1:c.1197_1198del	XP_011520682.1:p.His400LeufsTer8
XM_011522381.1:c.498_499del	XP_011520683.1:p.His167LeufsTer8
XM_011522382.1:c.1251_1252del	XP_011520684.1:p.His418LeufsTer8
XM_005255124.4:c.1251_1252del	XP_005255181.1:p.His418LeufsTer8
XM_005255125.4:c.1251_1252del	XP_005255182.1:p.His418LeufsTer8
XM_006720848.3:c.1251_1252del	XP_006720911.1:p.His418LeufsTer8
XM_011522381.2:c.498_499del	XP_011520683.1:p.His167LeufsTer8
XM_011522382.3:c.1251_1252del	XP_011520684.1:p.His418LeufsTer8
XM_017022944.1:c.1251_1252del	XP_016878433.1:p.His418LeufsTer8
NM_004380.3:c.1251_1252del MANE Select	NP_004371.2:p.His418LeufsTer8