Canonical Allele Identifier: CA2202928483

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051796345

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728111del , CM000678.2:g.3728111del	GRCh38
NC_000016.9:g.3778112del , CM000678.1:g.3778112del	GRCh37
NC_000016.8:g.3718113del	NCBI36
NG_009873.1:g.157013del
NG_009873.2:g.157606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6939del MANE Select	ENSP00000262367.5:p.Met2314Ter
ENST00000262367.9:c.6939del	ENSP00000262367.5:p.Met2314Ter
ENST00000382070.7:c.6825del	ENSP00000371502.3:p.Met2276Ter
NM_001079846.1:c.6825del	NP_001073315.1:p.Met2276Ter
NM_004380.2:c.6939del	NP_004371.2:p.Met2314Ter
XM_005255124.3:c.6894del	XP_005255181.1:p.Met2299Ter
XM_005255125.3:c.6522del	XP_005255182.1:p.Met2175Ter
XM_006720848.2:c.6678del	XP_006720911.1:p.Met2227Ter
XM_011522380.1:c.6885del	XP_011520682.1:p.Met2296Ter
XM_011522381.1:c.6186del	XP_011520683.1:p.Met2063Ter
XM_005255124.4:c.6894del	XP_005255181.1:p.Met2299Ter
XM_005255125.4:c.6522del	XP_005255182.1:p.Met2175Ter
XM_006720848.3:c.6678del	XP_006720911.1:p.Met2227Ter
XM_011522381.2:c.6186del	XP_011520683.1:p.Met2063Ter
XM_017022944.1:c.6933del	XP_016878433.1:p.Met2312Ter
NM_004380.3:c.6939del MANE Select	NP_004371.2:p.Met2314Ter