Canonical Allele Identifier: CA2695222672

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757907dup , CM000678.2:g.3757907dup	GRCh38
NC_000016.9:g.3807908dup , CM000678.1:g.3807908dup	GRCh37
NC_000016.8:g.3747909dup	NCBI36
NG_009873.1:g.127214dup
NG_009873.2:g.127807dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3511dup MANE Select	ENSP00000262367.5:p.Thr1171AsnfsTer6
ENST00000262367.9:c.3511dup	ENSP00000262367.5:p.Thr1171AsnfsTer6
ENST00000382070.7:c.3397dup	ENSP00000371502.3:p.Thr1133AsnfsTer6
ENST00000570939.2:c.2116dup	ENSP00000461002.2:p.Thr706AsnfsTer6
NM_001079846.1:c.3397dup	NP_001073315.1:p.Thr1133AsnfsTer6
NM_004380.2:c.3511dup	NP_004371.2:p.Thr1171AsnfsTer6
XM_005255124.3:c.3466dup	XP_005255181.1:p.Thr1156AsnfsTer6
XM_005255125.3:c.3094dup	XP_005255182.1:p.Thr1032AsnfsTer6
XM_006720848.2:c.3511dup	XP_006720911.1:p.Thr1171AsnfsTer6
XM_011522380.1:c.3457dup	XP_011520682.1:p.Thr1153AsnfsTer6
XM_011522381.1:c.2758dup	XP_011520683.1:p.Thr920AsnfsTer6
XM_011522382.1:c.3511dup	XP_011520684.1:p.Thr1171AsnfsTer6
XM_005255124.4:c.3466dup	XP_005255181.1:p.Thr1156AsnfsTer6
XM_005255125.4:c.3094dup	XP_005255182.1:p.Thr1032AsnfsTer6
XM_006720848.3:c.3511dup	XP_006720911.1:p.Thr1171AsnfsTer6
XM_011522381.2:c.2758dup	XP_011520683.1:p.Thr920AsnfsTer6
XM_011522382.3:c.3511dup	XP_011520684.1:p.Thr1171AsnfsTer6
XM_017022944.1:c.3505dup	XP_016878433.1:p.Thr1169AsnfsTer6
NM_004380.3:c.3511dup MANE Select	NP_004371.2:p.Thr1171AsnfsTer6