Canonical Allele Identifier: CA2695222695

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792073del , CM000678.2:g.3792073del	GRCh38
NC_000016.9:g.3842074del , CM000678.1:g.3842074del	GRCh37
NC_000016.8:g.3782075del	NCBI36
NG_009873.1:g.93048del
NG_009873.2:g.93641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1238del MANE Select	ENSP00000262367.5:p.Arg413HisfsTer21
ENST00000262367.9:c.1238del	ENSP00000262367.5:p.Arg413HisfsTer21
ENST00000382070.7:c.1216+1313del	ENSP00000371502.3:n.1216+1313del
NM_001079846.1:c.1216+1313del	NP_001073315.1:n.1216+1313del
NM_004380.2:c.1238del	NP_004371.2:p.Arg413HisfsTer21
XM_005255124.3:c.1238del	XP_005255181.1:p.Arg413HisfsTer21
XM_005255125.3:c.1238del	XP_005255182.1:p.Arg413HisfsTer21
XM_006720848.2:c.1238del	XP_006720911.1:p.Arg413HisfsTer21
XM_011522380.1:c.1184del	XP_011520682.1:p.Arg395HisfsTer21
XM_011522381.1:c.485del	XP_011520683.1:p.Arg162HisfsTer21
XM_011522382.1:c.1238del	XP_011520684.1:p.Arg413HisfsTer21
XM_005255124.4:c.1238del	XP_005255181.1:p.Arg413HisfsTer21
XM_005255125.4:c.1238del	XP_005255182.1:p.Arg413HisfsTer21
XM_006720848.3:c.1238del	XP_006720911.1:p.Arg413HisfsTer21
XM_011522381.2:c.485del	XP_011520683.1:p.Arg162HisfsTer21
XM_011522382.3:c.1238del	XP_011520684.1:p.Arg413HisfsTer21
XM_017022944.1:c.1238del	XP_016878433.1:p.Arg413HisfsTer21
NM_004380.3:c.1238del MANE Select	NP_004371.2:p.Arg413HisfsTer21