Canonical Allele Identifier: CA658798528

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 527957
• ClinVar RCV Id: RCV002234416
• dbSNP Id: rs1555473126

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736788_3736789delinsGA , CM000678.2:g.3736788_3736789delinsGA	GRCh38
NC_000016.9:g.3786789_3786790delinsGA , CM000678.1:g.3786789_3786790delinsGA	GRCh37
NC_000016.8:g.3726790_3726791delinsGA	NCBI36
NG_009873.1:g.148332_148333delinsTC
NG_009873.2:g.148925_148926delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4421_4422delinsTC MANE Select	ENSP00000262367.5:p.Cys1474Phe
ENST00000262367.9:c.4421_4422delinsTC	ENSP00000262367.5:p.Cys1474Phe
ENST00000382070.7:c.4307_4308delinsTC	ENSP00000371502.3:p.Cys1436Phe
ENST00000570939.2:c.3056_3057delinsTC	ENSP00000461002.2:p.Cys1019Phe
ENST00000571763.5:n.211_212delinsTC
ENST00000574740.1:n.242_243delinsTC
ENST00000576720.1:n.3244_3245delinsTC
NM_001079846.1:c.4307_4308delinsTC	NP_001073315.1:p.Cys1436Phe
NM_004380.2:c.4421_4422delinsTC	NP_004371.2:p.Cys1474Phe
XM_005255124.3:c.4376_4377delinsTC	XP_005255181.1:p.Cys1459Phe
XM_005255125.3:c.4004_4005delinsTC	XP_005255182.1:p.Cys1335Phe
XM_006720848.2:c.4160_4161delinsTC	XP_006720911.1:p.Cys1387Phe
XM_011522380.1:c.4367_4368delinsTC	XP_011520682.1:p.Cys1456Phe
XM_011522381.1:c.3668_3669delinsTC	XP_011520683.1:p.Cys1223Phe
XM_005255124.4:c.4376_4377delinsTC	XP_005255181.1:p.Cys1459Phe
XM_005255125.4:c.4004_4005delinsTC	XP_005255182.1:p.Cys1335Phe
XM_006720848.3:c.4160_4161delinsTC	XP_006720911.1:p.Cys1387Phe
XM_011522381.2:c.3668_3669delinsTC	XP_011520683.1:p.Cys1223Phe
XM_017022944.1:c.4415_4416delinsTC	XP_016878433.1:p.Cys1472Phe
NM_004380.3:c.4421_4422delinsTC MANE Select	NP_004371.2:p.Cys1474Phe