Canonical Allele Identifier: CA2631401485

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736531-TGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736532_3736569del , CM000678.2:g.3736532_3736569del	GRCh38
NC_000016.9:g.3786533_3786570del , CM000678.1:g.3786533_3786570del	GRCh37
NC_000016.8:g.3726534_3726571del	NCBI36
NG_009873.1:g.148552_148589del
NG_009873.2:g.149145_149182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+81_4560+118del MANE Select	ENSP00000262367.5:n.4560+81_4560+118del
ENST00000262367.9:c.4560+81_4560+118del	ENSP00000262367.5:n.4560+81_4560+118del
ENST00000382070.7:c.4446+81_4446+118del	ENSP00000371502.3:n.4446+81_4446+118del
ENST00000570939.2:c.3195+81_3195+118del	ENSP00000461002.2:n.3195+81_3195+118del
ENST00000571763.5:n.350+81_350+118del
ENST00000574740.1:n.462_499del
ENST00000576720.1:n.3383+81_3383+118del
NM_001079846.1:c.4446+81_4446+118del	NP_001073315.1:n.4446+81_4446+118del
NM_004380.2:c.4560+81_4560+118del	NP_004371.2:n.4560+81_4560+118del
XM_005255124.3:c.4515+81_4515+118del	XP_005255181.1:n.4515+81_4515+118del
XM_005255125.3:c.4143+81_4143+118del	XP_005255182.1:n.4143+81_4143+118del
XM_006720848.2:c.4299+81_4299+118del	XP_006720911.1:n.4299+81_4299+118del
XM_011522380.1:c.4506+81_4506+118del	XP_011520682.1:n.4506+81_4506+118del
XM_011522381.1:c.3807+81_3807+118del	XP_011520683.1:n.3807+81_3807+118del
XM_005255124.4:c.4515+81_4515+118del	XP_005255181.1:n.4515+81_4515+118del
XM_005255125.4:c.4143+81_4143+118del	XP_005255182.1:n.4143+81_4143+118del
XM_006720848.3:c.4299+81_4299+118del	XP_006720911.1:n.4299+81_4299+118del
XM_011522381.2:c.3807+81_3807+118del	XP_011520683.1:n.3807+81_3807+118del
XM_017022944.1:c.4554+81_4554+118del	XP_016878433.1:n.4554+81_4554+118del
NM_004380.3:c.4560+81_4560+118del MANE Select	NP_004371.2:n.4560+81_4560+118del