Canonical Allele Identifier: CA2841701433

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770836dup , CM000678.2:g.3770836dup	GRCh38
NC_000016.9:g.3820837dup , CM000678.1:g.3820837dup	GRCh37
NC_000016.8:g.3760838dup	NCBI36
NG_009873.1:g.114285dup
NG_009873.2:g.114878dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2614dup MANE Select	ENSP00000262367.5:p.Thr872AsnfsTer?
ENST00000262367.9:c.2614dup	ENSP00000262367.5:p.Thr872AsnfsTer?
ENST00000382070.7:c.2500dup	ENSP00000371502.3:p.Thr834AsnfsTer?
ENST00000570939.2:c.1219dup	ENSP00000461002.2:p.Thr407AsnfsTer?
NM_001079846.1:c.2500dup	NP_001073315.1:p.Thr834AsnfsTer?
NM_004380.2:c.2614dup	NP_004371.2:p.Thr872AsnfsTer?
XM_005255124.3:c.2569dup	XP_005255181.1:p.Thr857AsnfsTer?
XM_005255125.3:c.2464-1483dup	XP_005255182.1:n.2464-1483dup
XM_006720848.2:c.2614dup	XP_006720911.1:p.Thr872AsnfsTer?
XM_011522380.1:c.2560dup	XP_011520682.1:p.Thr854AsnfsTer?
XM_011522381.1:c.1861dup	XP_011520683.1:p.Thr621AsnfsTer?
XM_011522382.1:c.2614dup	XP_011520684.1:p.Thr872AsnfsTer?
XM_005255124.4:c.2569dup	XP_005255181.1:p.Thr857AsnfsTer?
XM_005255125.4:c.2464-1483dup	XP_005255182.1:n.2464-1483dup
XM_006720848.3:c.2614dup	XP_006720911.1:p.Thr872AsnfsTer?
XM_011522381.2:c.1861dup	XP_011520683.1:p.Thr621AsnfsTer?
XM_011522382.3:c.2614dup	XP_011520684.1:p.Thr872AsnfsTer?
XM_017022944.1:c.2608dup	XP_016878433.1:p.Thr870AsnfsTer?
NM_004380.3:c.2614dup MANE Select	NP_004371.2:p.Thr872AsnfsTer?