Canonical Allele Identifier: CA658798522

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 522462
• ClinVar RCV Id: RCV000625603
• dbSNP Id: rs1555470631

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727471_3727786delinsG , CM000678.2:g.3727471_3727786delinsG	GRCh38
NC_000016.9:g.3777472_3777787delinsG , CM000678.1:g.3777472_3777787delinsG	GRCh37
NC_000016.8:g.3717473_3717788delinsG	NCBI36
NG_009873.1:g.157335_157650delinsC
NG_009873.2:g.157928_158243delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7261_*247delinsC MANE Select	ENSP00000262367.5:n.[c.7261_*247delinsC;Ser2421LeufsTer26]
ENST00000262367.9:c.7261_*247delinsC	ENSP00000262367.5:n.[c.7261_*247delinsC;Ser2421LeufsTer26]
NM_001079846.1:c.7147_*247delinsC	NP_001073315.1:n.[c.7147_*247delinsC;Ser2383LeufsTer26]
NM_004380.2:c.7261_*247delinsC	NP_004371.2:n.[c.7261_*247delinsC;Ser2421LeufsTer26]
XM_005255124.3:c.7216_*247delinsC	XP_005255181.1:n.[c.7216_*247delinsC;Ser2406LeufsTer26]
XM_005255125.3:c.6844_*247delinsC	XP_005255182.1:n.[c.6844_*247delinsC;Ser2282LeufsTer26]
XM_006720848.2:c.7000_*247delinsC	XP_006720911.1:n.[c.7000_*247delinsC;Ser2334LeufsTer26]
XM_011522380.1:c.7207_*247delinsC	XP_011520682.1:n.[c.7207_*247delinsC;Ser2403LeufsTer26]
XM_011522381.1:c.6508_*247delinsC	XP_011520683.1:n.[c.6508_*247delinsC;Ser2170LeufsTer26]
XM_005255124.4:c.7216_*247delinsC	XP_005255181.1:n.[c.7216_*247delinsC;Ser2406LeufsTer26]
XM_005255125.4:c.6844_*247delinsC	XP_005255182.1:n.[c.6844_*247delinsC;Ser2282LeufsTer26]
XM_006720848.3:c.7000_*247delinsC	XP_006720911.1:n.[c.7000_*247delinsC;Ser2334LeufsTer26]
XM_011522381.2:c.6508_*247delinsC	XP_011520683.1:n.[c.6508_*247delinsC;Ser2170LeufsTer26]
XM_017022944.1:c.7255_*247delinsC	XP_016878433.1:n.[c.7255_*247delinsC;Ser2419LeufsTer26]
NM_004380.3:c.7261_*247delinsC MANE Select	NP_004371.2:n.[c.7261_*247delinsC;Ser2421LeufsTer26]