Canonical Allele Identifier: CA2731850401

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305323

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728818del , CM000678.2:g.3728818del	GRCh38
NC_000016.9:g.3778819del , CM000678.1:g.3778819del	GRCh37
NC_000016.8:g.3718820del	NCBI36
NG_009873.1:g.156305del
NG_009873.2:g.156898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6231del MANE Select	ENSP00000262367.5:p.Ser2078AlafsTer10
ENST00000262367.9:c.6231del	ENSP00000262367.5:p.Ser2078AlafsTer10
ENST00000382070.7:c.6117del	ENSP00000371502.3:p.Ser2040AlafsTer10
NM_001079846.1:c.6117del	NP_001073315.1:p.Ser2040AlafsTer10
NM_004380.2:c.6231del	NP_004371.2:p.Ser2078AlafsTer10
XM_005255124.3:c.6186del	XP_005255181.1:p.Ser2063AlafsTer10
XM_005255125.3:c.5814del	XP_005255182.1:p.Ser1939AlafsTer10
XM_006720848.2:c.5970del	XP_006720911.1:p.Ser1991AlafsTer10
XM_011522380.1:c.6177del	XP_011520682.1:p.Ser2060AlafsTer10
XM_011522381.1:c.5478del	XP_011520683.1:p.Ser1827AlafsTer10
XM_005255124.4:c.6186del	XP_005255181.1:p.Ser2063AlafsTer10
XM_005255125.4:c.5814del	XP_005255182.1:p.Ser1939AlafsTer10
XM_006720848.3:c.5970del	XP_006720911.1:p.Ser1991AlafsTer10
XM_011522381.2:c.5478del	XP_011520683.1:p.Ser1827AlafsTer10
XM_017022944.1:c.6225del	XP_016878433.1:p.Ser2076AlafsTer10
NM_004380.3:c.6231del MANE Select	NP_004371.2:p.Ser2078AlafsTer10