Canonical Allele Identifier: CA2202940474

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740145_3740150delinsTAATAA , CM000678.2:g.3740145_3740150delinsTAATAA	GRCh38
NC_000016.9:g.3790146_3790151delinsTAATAA , CM000678.1:g.3790146_3790151delinsTAATAA	GRCh37
NC_000016.8:g.3730147_3730152delinsTAATAA	NCBI36
NG_009873.1:g.144971_144976delinsTTATTA
NG_009873.2:g.145564_145569delinsTTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+249_4133+254delinsTTATTA MANE Select	ENSP00000262367.5:n.4133+249_4133+254delinsTTATTA
ENST00000262367.9:c.4133+249_4133+254delinsTTATTA	ENSP00000262367.5:n.4133+249_4133+254delinsTTATTA
ENST00000382070.7:c.4019+249_4019+254delinsTTATTA	ENSP00000371502.3:n.4019+249_4019+254delinsTTATTA
ENST00000570939.2:c.2768+249_2768+254delinsTTATTA	ENSP00000461002.2:n.2768+249_2768+254delinsTTATTA
ENST00000573517.6:c.439+249_439+254delinsTTATTA
ENST00000574740.1:n.215+249_215+254delinsTTATTA
ENST00000576720.1:n.3070+249_3070+254delinsTTATTA
NM_001079846.1:c.4019+249_4019+254delinsTTATTA	NP_001073315.1:n.4019+249_4019+254delinsTTATTA
NM_004380.2:c.4133+249_4133+254delinsTTATTA	NP_004371.2:n.4133+249_4133+254delinsTTATTA
XM_005255124.3:c.4088+249_4088+254delinsTTATTA	XP_005255181.1:n.4088+249_4088+254delinsTTATTA
XM_005255125.3:c.3716+249_3716+254delinsTTATTA	XP_005255182.1:n.3716+249_3716+254delinsTTATTA
XM_006720848.2:c.4133+249_4133+254delinsTTATTA	XP_006720911.1:n.4133+249_4133+254delinsTTATTA
XM_011522380.1:c.4079+249_4079+254delinsTTATTA	XP_011520682.1:n.4079+249_4079+254delinsTTATTA
XM_011522381.1:c.3380+249_3380+254delinsTTATTA	XP_011520683.1:n.3380+249_3380+254delinsTTATTA
XM_005255124.4:c.4088+249_4088+254delinsTTATTA	XP_005255181.1:n.4088+249_4088+254delinsTTATTA
XM_005255125.4:c.3716+249_3716+254delinsTTATTA	XP_005255182.1:n.3716+249_3716+254delinsTTATTA
XM_006720848.3:c.4133+249_4133+254delinsTTATTA	XP_006720911.1:n.4133+249_4133+254delinsTTATTA
XM_011522381.2:c.3380+249_3380+254delinsTTATTA	XP_011520683.1:n.3380+249_3380+254delinsTTATTA
XM_017022944.1:c.4127+249_4127+254delinsTTATTA	XP_016878433.1:n.4127+249_4127+254delinsTTATTA
NM_004380.3:c.4133+249_4133+254delinsTTATTA MANE Select	NP_004371.2:n.4133+249_4133+254delinsTTATTA