Canonical Allele Identifier: CA720728878

Gene: CREBBP

Linked Data

• dbSNP Id: rs1340125755
• MyVariant Identifiers: chr16:g.3790128_3790137del (hg19) ; chr16:g.3740127_3740136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740129_3740138del , CM000678.2:g.3740129_3740138del	GRCh38
NC_000016.9:g.3790130_3790139del , CM000678.1:g.3790130_3790139del	GRCh37
NC_000016.8:g.3730131_3730140del	NCBI36
NG_009873.1:g.144985_144994del
NG_009873.2:g.145578_145587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+263_4133+272del MANE Select	ENSP00000262367.5:n.4133+263_4133+272del
ENST00000262367.9:c.4133+263_4133+272del	ENSP00000262367.5:n.4133+263_4133+272del
ENST00000382070.7:c.4019+263_4019+272del	ENSP00000371502.3:n.4019+263_4019+272del
ENST00000570939.2:c.2768+263_2768+272del	ENSP00000461002.2:n.2768+263_2768+272del
ENST00000573517.6:c.439+263_439+272del
ENST00000574740.1:n.215+263_215+272del
ENST00000576720.1:n.3070+263_3070+272del
NM_001079846.1:c.4019+263_4019+272del	NP_001073315.1:n.4019+263_4019+272del
NM_004380.2:c.4133+263_4133+272del	NP_004371.2:n.4133+263_4133+272del
XM_005255124.3:c.4088+263_4088+272del	XP_005255181.1:n.4088+263_4088+272del
XM_005255125.3:c.3716+263_3716+272del	XP_005255182.1:n.3716+263_3716+272del
XM_006720848.2:c.4133+263_4133+272del	XP_006720911.1:n.4133+263_4133+272del
XM_011522380.1:c.4079+263_4079+272del	XP_011520682.1:n.4079+263_4079+272del
XM_011522381.1:c.3380+263_3380+272del	XP_011520683.1:n.3380+263_3380+272del
XM_005255124.4:c.4088+263_4088+272del	XP_005255181.1:n.4088+263_4088+272del
XM_005255125.4:c.3716+263_3716+272del	XP_005255182.1:n.3716+263_3716+272del
XM_006720848.3:c.4133+263_4133+272del	XP_006720911.1:n.4133+263_4133+272del
XM_011522381.2:c.3380+263_3380+272del	XP_011520683.1:n.3380+263_3380+272del
XM_017022944.1:c.4127+263_4127+272del	XP_016878433.1:n.4127+263_4127+272del
NM_004380.3:c.4133+263_4133+272del MANE Select	NP_004371.2:n.4133+263_4133+272del