Canonical Allele Identifier: CA915949051

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694761
• ClinVar RCV Id: RCV000856853
• dbSNP Id: rs1596947732

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3793477_3793478dup , CM000678.2:g.3793477_3793478dup	GRCh38
NC_000016.9:g.3843478_3843479dup , CM000678.1:g.3843478_3843479dup	GRCh37
NC_000016.8:g.3783479_3783480dup	NCBI36
NG_009873.1:g.91646_91647dup
NG_009873.2:g.92239_92240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1127_1128dup MANE Select	ENSP00000262367.5:p.Val377ArgfsTer13
ENST00000262367.9:c.1127_1128dup	ENSP00000262367.5:p.Val377ArgfsTer13
ENST00000382070.7:c.1127_1128dup	ENSP00000371502.3:p.Val377ArgfsTer13
NM_001079846.1:c.1127_1128dup	NP_001073315.1:p.Val377ArgfsTer13
NM_004380.2:c.1127_1128dup	NP_004371.2:p.Val377ArgfsTer13
XM_005255124.3:c.1127_1128dup	XP_005255181.1:p.Val377ArgfsTer13
XM_005255125.3:c.1127_1128dup	XP_005255182.1:p.Val377ArgfsTer13
XM_006720848.2:c.1127_1128dup	XP_006720911.1:p.Val377ArgfsTer13
XM_011522380.1:c.1073_1074dup	XP_011520682.1:p.Val359ArgfsTer13
XM_011522381.1:c.374_375dup	XP_011520683.1:p.Val126ArgfsTer13
XM_011522382.1:c.1127_1128dup	XP_011520684.1:p.Val377ArgfsTer13
XM_005255124.4:c.1127_1128dup	XP_005255181.1:p.Val377ArgfsTer13
XM_005255125.4:c.1127_1128dup	XP_005255182.1:p.Val377ArgfsTer13
XM_006720848.3:c.1127_1128dup	XP_006720911.1:p.Val377ArgfsTer13
XM_011522381.2:c.374_375dup	XP_011520683.1:p.Val126ArgfsTer13
XM_011522382.3:c.1127_1128dup	XP_011520684.1:p.Val377ArgfsTer13
XM_017022944.1:c.1127_1128dup	XP_016878433.1:p.Val377ArgfsTer13
NM_004380.3:c.1127_1128dup MANE Select	NP_004371.2:p.Val377ArgfsTer13