Canonical Allele Identifier: CA2695222630

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736767del , CM000678.2:g.3736767del	GRCh38
NC_000016.9:g.3786768del , CM000678.1:g.3786768del	GRCh37
NC_000016.8:g.3726769del	NCBI36
NG_009873.1:g.148355del
NG_009873.2:g.148948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4444del MANE Select	ENSP00000262367.5:p.Tyr1482ThrfsTer?
ENST00000262367.9:c.4444del	ENSP00000262367.5:p.Tyr1482ThrfsTer?
ENST00000382070.7:c.4330del	ENSP00000371502.3:p.Tyr1444ThrfsTer?
ENST00000570939.2:c.3079del	ENSP00000461002.2:p.Tyr1027ThrfsTer?
ENST00000571763.5:n.234del
ENST00000574740.1:n.265del
ENST00000576720.1:n.3267del
NM_001079846.1:c.4330del	NP_001073315.1:p.Tyr1444ThrfsTer?
NM_004380.2:c.4444del	NP_004371.2:p.Tyr1482ThrfsTer?
XM_005255124.3:c.4399del	XP_005255181.1:p.Tyr1467ThrfsTer?
XM_005255125.3:c.4027del	XP_005255182.1:p.Tyr1343ThrfsTer?
XM_006720848.2:c.4183del	XP_006720911.1:p.Tyr1395ThrfsTer?
XM_011522380.1:c.4390del	XP_011520682.1:p.Tyr1464ThrfsTer?
XM_011522381.1:c.3691del	XP_011520683.1:p.Tyr1231ThrfsTer?
XM_005255124.4:c.4399del	XP_005255181.1:p.Tyr1467ThrfsTer?
XM_005255125.4:c.4027del	XP_005255182.1:p.Tyr1343ThrfsTer?
XM_006720848.3:c.4183del	XP_006720911.1:p.Tyr1395ThrfsTer?
XM_011522381.2:c.3691del	XP_011520683.1:p.Tyr1231ThrfsTer?
XM_017022944.1:c.4438del	XP_016878433.1:p.Tyr1480ThrfsTer?
NM_004380.3:c.4444del MANE Select	NP_004371.2:p.Tyr1482ThrfsTer?