Canonical Allele Identifier: CA2202940549

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740192_3740194delinsGTC , CM000678.2:g.3740192_3740194delinsGTC	GRCh38
NC_000016.9:g.3790193_3790195delinsGTC , CM000678.1:g.3790193_3790195delinsGTC	GRCh37
NC_000016.8:g.3730194_3730196delinsGTC	NCBI36
NG_009873.1:g.144927_144929delinsGAC
NG_009873.2:g.145520_145522delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+205_4133+207delinsGAC MANE Select	ENSP00000262367.5:n.4133+205_4133+207delinsGAC
ENST00000262367.9:c.4133+205_4133+207delinsGAC	ENSP00000262367.5:n.4133+205_4133+207delinsGAC
ENST00000382070.7:c.4019+205_4019+207delinsGAC	ENSP00000371502.3:n.4019+205_4019+207delinsGAC
ENST00000570939.2:c.2768+205_2768+207delinsGAC	ENSP00000461002.2:n.2768+205_2768+207delinsGAC
ENST00000573517.6:c.439+205_439+207delinsGAC
ENST00000574740.1:n.215+205_215+207delinsGAC
ENST00000576720.1:n.3070+205_3070+207delinsGAC
NM_001079846.1:c.4019+205_4019+207delinsGAC	NP_001073315.1:n.4019+205_4019+207delinsGAC
NM_004380.2:c.4133+205_4133+207delinsGAC	NP_004371.2:n.4133+205_4133+207delinsGAC
XM_005255124.3:c.4088+205_4088+207delinsGAC	XP_005255181.1:n.4088+205_4088+207delinsGAC
XM_005255125.3:c.3716+205_3716+207delinsGAC	XP_005255182.1:n.3716+205_3716+207delinsGAC
XM_006720848.2:c.4133+205_4133+207delinsGAC	XP_006720911.1:n.4133+205_4133+207delinsGAC
XM_011522380.1:c.4079+205_4079+207delinsGAC	XP_011520682.1:n.4079+205_4079+207delinsGAC
XM_011522381.1:c.3380+205_3380+207delinsGAC	XP_011520683.1:n.3380+205_3380+207delinsGAC
XM_005255124.4:c.4088+205_4088+207delinsGAC	XP_005255181.1:n.4088+205_4088+207delinsGAC
XM_005255125.4:c.3716+205_3716+207delinsGAC	XP_005255182.1:n.3716+205_3716+207delinsGAC
XM_006720848.3:c.4133+205_4133+207delinsGAC	XP_006720911.1:n.4133+205_4133+207delinsGAC
XM_011522381.2:c.3380+205_3380+207delinsGAC	XP_011520683.1:n.3380+205_3380+207delinsGAC
XM_017022944.1:c.4127+205_4127+207delinsGAC	XP_016878433.1:n.4127+205_4127+207delinsGAC
NM_004380.3:c.4133+205_4133+207delinsGAC MANE Select	NP_004371.2:n.4133+205_4133+207delinsGAC