Canonical Allele Identifier: CA2825002418

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729215_3729216del , CM000678.2:g.3729215_3729216del	GRCh38
NC_000016.9:g.3779216_3779217del , CM000678.1:g.3779216_3779217del	GRCh37
NC_000016.8:g.3719217_3719218del	NCBI36
NG_009873.1:g.155910_155911del
NG_009873.2:g.156503_156504del

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5836_5837del MANE Select	NP_004371.2:p.Pro1946ThrfsTer19
ENST00000262367.10:c.5836_5837del MANE Select	ENSP00000262367.5:p.Pro1946ThrfsTer19
NM_001079846.1:c.5722_5723del	NP_001073315.1:p.Pro1908ThrfsTer19
NM_004380.2:c.5836_5837del	NP_004371.2:p.Pro1946ThrfsTer19
ENST00000262367.9:c.5836_5837del	ENSP00000262367.5:p.Pro1946ThrfsTer19
ENST00000382070.7:c.5722_5723del	ENSP00000371502.3:p.Pro1908ThrfsTer19
XM_005255124.3:c.5791_5792del	XP_005255181.1:p.Pro1931ThrfsTer19
XM_005255124.4:c.5791_5792del	XP_005255181.1:p.Pro1931ThrfsTer19
XM_005255125.3:c.5419_5420del	XP_005255182.1:p.Pro1807ThrfsTer19
XM_005255125.4:c.5419_5420del	XP_005255182.1:p.Pro1807ThrfsTer19
XM_006720848.2:c.5575_5576del	XP_006720911.1:p.Pro1859ThrfsTer19
XM_006720848.3:c.5575_5576del	XP_006720911.1:p.Pro1859ThrfsTer19
XM_011522380.1:c.5782_5783del	XP_011520682.1:p.Pro1928ThrfsTer19
XM_011522381.1:c.5083_5084del	XP_011520683.1:p.Pro1695ThrfsTer19
XM_011522381.2:c.5083_5084del	XP_011520683.1:p.Pro1695ThrfsTer19
XM_017022944.1:c.5830_5831del	XP_016878433.1:p.Pro1944ThrfsTer19