Canonical Allele Identifier: CA2202940600

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052169402

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740241_3740242del , CM000678.2:g.3740241_3740242del	GRCh38
NC_000016.9:g.3790242_3790243del , CM000678.1:g.3790242_3790243del	GRCh37
NC_000016.8:g.3730243_3730244del	NCBI36
NG_009873.1:g.144879_144880del
NG_009873.2:g.145472_145473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+157_4133+158del MANE Select	ENSP00000262367.5:n.4133+157_4133+158del
ENST00000262367.9:c.4133+157_4133+158del	ENSP00000262367.5:n.4133+157_4133+158del
ENST00000382070.7:c.4019+157_4019+158del	ENSP00000371502.3:n.4019+157_4019+158del
ENST00000570939.2:c.2768+157_2768+158del	ENSP00000461002.2:n.2768+157_2768+158del
ENST00000573517.6:c.439+157_439+158del
ENST00000574740.1:n.215+157_215+158del
ENST00000576720.1:n.3070+157_3070+158del
NM_001079846.1:c.4019+157_4019+158del	NP_001073315.1:n.4019+157_4019+158del
NM_004380.2:c.4133+157_4133+158del	NP_004371.2:n.4133+157_4133+158del
XM_005255124.3:c.4088+157_4088+158del	XP_005255181.1:n.4088+157_4088+158del
XM_005255125.3:c.3716+157_3716+158del	XP_005255182.1:n.3716+157_3716+158del
XM_006720848.2:c.4133+157_4133+158del	XP_006720911.1:n.4133+157_4133+158del
XM_011522380.1:c.4079+157_4079+158del	XP_011520682.1:n.4079+157_4079+158del
XM_011522381.1:c.3380+157_3380+158del	XP_011520683.1:n.3380+157_3380+158del
XM_005255124.4:c.4088+157_4088+158del	XP_005255181.1:n.4088+157_4088+158del
XM_005255125.4:c.3716+157_3716+158del	XP_005255182.1:n.3716+157_3716+158del
XM_006720848.3:c.4133+157_4133+158del	XP_006720911.1:n.4133+157_4133+158del
XM_011522381.2:c.3380+157_3380+158del	XP_011520683.1:n.3380+157_3380+158del
XM_017022944.1:c.4127+157_4127+158del	XP_016878433.1:n.4127+157_4127+158del
NM_004380.3:c.4133+157_4133+158del MANE Select	NP_004371.2:n.4133+157_4133+158del