Canonical Allele Identifier: CA2202928876

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728851_3728862delinsCGCTGGGTGAGA , CM000678.2:g.3728851_3728862delinsCGCTGGGTGAGA	GRCh38
NC_000016.9:g.3778852_3778863delinsCGCTGGGTGAGA , CM000678.1:g.3778852_3778863delinsCGCTGGGTGAGA	GRCh37
NC_000016.8:g.3718853_3718864delinsCGCTGGGTGAGA	NCBI36
NG_009873.1:g.156259_156270delinsTCTCACCCAGCG
NG_009873.2:g.156852_156863delinsTCTCACCCAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6185_6196delinsTCTCACCCAGCG MANE Select	ENSP00000262367.5:p.Ile2062=
ENST00000262367.9:c.6185_6196delinsTCTCACCCAGCG	ENSP00000262367.5:p.Ile2062=
ENST00000382070.7:c.6071_6082delinsTCTCACCCAGCG	ENSP00000371502.3:p.Ile2024=
NM_001079846.1:c.6071_6082delinsTCTCACCCAGCG	NP_001073315.1:p.Ile2024=
NM_004380.2:c.6185_6196delinsTCTCACCCAGCG	NP_004371.2:p.Ile2062=
XM_005255124.3:c.6140_6151delinsTCTCACCCAGCG	XP_005255181.1:p.Ile2047=
XM_005255125.3:c.5768_5779delinsTCTCACCCAGCG	XP_005255182.1:p.Ile1923=
XM_006720848.2:c.5924_5935delinsTCTCACCCAGCG	XP_006720911.1:p.Ile1975=
XM_011522380.1:c.6131_6142delinsTCTCACCCAGCG	XP_011520682.1:p.Ile2044=
XM_011522381.1:c.5432_5443delinsTCTCACCCAGCG	XP_011520683.1:p.Ile1811=
XM_005255124.4:c.6140_6151delinsTCTCACCCAGCG	XP_005255181.1:p.Ile2047=
XM_005255125.4:c.5768_5779delinsTCTCACCCAGCG	XP_005255182.1:p.Ile1923=
XM_006720848.3:c.5924_5935delinsTCTCACCCAGCG	XP_006720911.1:p.Ile1975=
XM_011522381.2:c.5432_5443delinsTCTCACCCAGCG	XP_011520683.1:p.Ile1811=
XM_017022944.1:c.6179_6190delinsTCTCACCCAGCG	XP_016878433.1:p.Ile2060=
NM_004380.3:c.6185_6196delinsTCTCACCCAGCG MANE Select	NP_004371.2:p.Ile2062=