Canonical Allele Identifier: CA277424

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 210783
• ClinVar RCV Id: RCV000195029 ; RCV004545758
• dbSNP Id: rs587783507
• gnomAD v2: 16-3779210-T-TG
• gnomAD v4: 16-3729209-T-TG
• MyVariant Identifiers: chr16:g.3779211dupG (hg19) ; chr16:g.3779211_3779212insG (hg19) ; chr16:g.3779210_3779211insG (hg19) ; chr16:g.3729210dupG (hg38) ; chr16:g.3729209_3729210insG (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5837dup MANE Select	ENSP00000262367.5:p.Pro1947ThrfsTer19
ENST00000262367.9:c.5837dup	ENSP00000262367.5:p.Pro1947ThrfsTer19
ENST00000382070.7:c.5723dup	ENSP00000371502.3:p.Pro1909ThrfsTer19
NM_001079846.1:c.5723dup	NP_001073315.1:p.Pro1909ThrfsTer19
NM_004380.2:c.5837dup	NP_004371.2:p.Pro1947ThrfsTer19
XM_005255124.3:c.5792dup	XP_005255181.1:p.Pro1932ThrfsTer19
XM_005255125.3:c.5420dup	XP_005255182.1:p.Pro1808ThrfsTer19
XM_006720848.2:c.5576dup	XP_006720911.1:p.Pro1860ThrfsTer19
XM_011522380.1:c.5783dup	XP_011520682.1:p.Pro1929ThrfsTer19
XM_011522381.1:c.5084dup	XP_011520683.1:p.Pro1696ThrfsTer19
XM_005255124.4:c.5792dup	XP_005255181.1:p.Pro1932ThrfsTer19
XM_005255125.4:c.5420dup	XP_005255182.1:p.Pro1808ThrfsTer19
XM_006720848.3:c.5576dup	XP_006720911.1:p.Pro1860ThrfsTer19
XM_011522381.2:c.5084dup	XP_011520683.1:p.Pro1696ThrfsTer19
XM_017022944.1:c.5831dup	XP_016878433.1:p.Pro1945ThrfsTer19
NM_004380.3:c.5837dup MANE Select	NP_004371.2:p.Pro1947ThrfsTer19