Canonical Allele Identifier: CA2740093245

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3027442
• ClinVar RCV Id: RCV003887834

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728925del , CM000678.2:g.3728925del	GRCh38
NC_000016.9:g.3778926del , CM000678.1:g.3778926del	GRCh37
NC_000016.8:g.3718927del	NCBI36
NG_009873.1:g.156197del
NG_009873.2:g.156790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6123del MANE Select	ENSP00000262367.5:p.Met2042CysfsTer?
ENST00000262367.9:c.6123del	ENSP00000262367.5:p.Met2042CysfsTer?
ENST00000382070.7:c.6009del	ENSP00000371502.3:p.Met2004CysfsTer?
NM_001079846.1:c.6009del	NP_001073315.1:p.Met2004CysfsTer?
NM_004380.2:c.6123del	NP_004371.2:p.Met2042CysfsTer?
XM_005255124.3:c.6078del	XP_005255181.1:p.Met2027CysfsTer?
XM_005255125.3:c.5706del	XP_005255182.1:p.Met1903CysfsTer?
XM_006720848.2:c.5862del	XP_006720911.1:p.Met1955CysfsTer?
XM_011522380.1:c.6069del	XP_011520682.1:p.Met2024CysfsTer?
XM_011522381.1:c.5370del	XP_011520683.1:p.Met1791CysfsTer?
XM_005255124.4:c.6078del	XP_005255181.1:p.Met2027CysfsTer?
XM_005255125.4:c.5706del	XP_005255182.1:p.Met1903CysfsTer?
XM_006720848.3:c.5862del	XP_006720911.1:p.Met1955CysfsTer?
XM_011522381.2:c.5370del	XP_011520683.1:p.Met1791CysfsTer?
XM_017022944.1:c.6117del	XP_016878433.1:p.Met2040CysfsTer?
NM_004380.3:c.6123del MANE Select	NP_004371.2:p.Met2042CysfsTer?