Canonical Allele Identifier: CA271432

Gene: CREBBP

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729216del , CM000678.2:g.3729216del	GRCh38
NC_000016.9:g.3779217del , CM000678.1:g.3779217del	GRCh37
NC_000016.8:g.3719218del	NCBI36
NG_009873.1:g.155911del
NG_009873.2:g.156504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5837del MANE Select	ENSP00000262367.5:p.Pro1946HisfsTer30
ENST00000262367.9:c.5837del	ENSP00000262367.5:p.Pro1946HisfsTer30
ENST00000382070.7:c.5723del	ENSP00000371502.3:p.Pro1908HisfsTer30
NM_001079846.1:c.5723del	NP_001073315.1:p.Pro1908HisfsTer30
NM_004380.2:c.5837del	NP_004371.2:p.Pro1946HisfsTer30
XM_005255124.3:c.5792del	XP_005255181.1:p.Pro1931HisfsTer30
XM_005255125.3:c.5420del	XP_005255182.1:p.Pro1807HisfsTer30
XM_006720848.2:c.5576del	XP_006720911.1:p.Pro1859HisfsTer30
XM_011522380.1:c.5783del	XP_011520682.1:p.Pro1928HisfsTer30
XM_011522381.1:c.5084del	XP_011520683.1:p.Pro1695HisfsTer30
XM_005255124.4:c.5792del	XP_005255181.1:p.Pro1931HisfsTer30
XM_005255125.4:c.5420del	XP_005255182.1:p.Pro1807HisfsTer30
XM_006720848.3:c.5576del	XP_006720911.1:p.Pro1859HisfsTer30
XM_011522381.2:c.5084del	XP_011520683.1:p.Pro1695HisfsTer30
XM_017022944.1:c.5831del	XP_016878433.1:p.Pro1944HisfsTer30
NM_004380.3:c.5837del MANE Select	NP_004371.2:p.Pro1946HisfsTer30