Canonical Allele Identifier: CA2805633015

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729215_3729216dup , CM000678.2:g.3729215_3729216dup	GRCh38
NC_000016.9:g.3779216_3779217dup , CM000678.1:g.3779216_3779217dup	GRCh37
NC_000016.8:g.3719217_3719218dup	NCBI36
NG_009873.1:g.155910_155911dup
NG_009873.2:g.156503_156504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5836_5837dup MANE Select	ENSP00000262367.5:p.Pro1947HisfsTer30
ENST00000262367.9:c.5836_5837dup	ENSP00000262367.5:p.Pro1947HisfsTer30
ENST00000382070.7:c.5722_5723dup	ENSP00000371502.3:p.Pro1909HisfsTer30
NM_001079846.1:c.5722_5723dup	NP_001073315.1:p.Pro1909HisfsTer30
NM_004380.2:c.5836_5837dup	NP_004371.2:p.Pro1947HisfsTer30
XM_005255124.3:c.5791_5792dup	XP_005255181.1:p.Pro1932HisfsTer30
XM_005255125.3:c.5419_5420dup	XP_005255182.1:p.Pro1808HisfsTer30
XM_006720848.2:c.5575_5576dup	XP_006720911.1:p.Pro1860HisfsTer30
XM_011522380.1:c.5782_5783dup	XP_011520682.1:p.Pro1929HisfsTer30
XM_011522381.1:c.5083_5084dup	XP_011520683.1:p.Pro1696HisfsTer30
XM_005255124.4:c.5791_5792dup	XP_005255181.1:p.Pro1932HisfsTer30
XM_005255125.4:c.5419_5420dup	XP_005255182.1:p.Pro1808HisfsTer30
XM_006720848.3:c.5575_5576dup	XP_006720911.1:p.Pro1860HisfsTer30
XM_011522381.2:c.5083_5084dup	XP_011520683.1:p.Pro1696HisfsTer30
XM_017022944.1:c.5830_5831dup	XP_016878433.1:p.Pro1945HisfsTer30
NM_004380.3:c.5836_5837dup MANE Select	NP_004371.2:p.Pro1947HisfsTer30