Canonical Allele Identifier: CA276982909
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs149885136

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3740201_3740202del , CM000678.2:g.3740201_3740202del GRCh38
NC_000016.9:g.3790202_3790203del , CM000678.1:g.3790202_3790203del GRCh37
NC_000016.8:g.3730203_3730204del NCBI36
NG_009873.1:g.144927_144928del
NG_009873.2:g.145520_145521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4133+205_4133+206del MANE Select ENSP00000262367.5:n.4133+205_4133+206del
ENST00000262367.9:c.4133+205_4133+206del ENSP00000262367.5:n.4133+205_4133+206del
ENST00000382070.7:c.4019+205_4019+206del ENSP00000371502.3:n.4019+205_4019+206del
ENST00000570939.2:c.2768+205_2768+206del ENSP00000461002.2:n.2768+205_2768+206del
ENST00000573517.6:c.439+205_439+206del
ENST00000574740.1:n.215+205_215+206del
ENST00000576720.1:n.3070+205_3070+206del
NM_001079846.1:c.4019+205_4019+206del NP_001073315.1:n.4019+205_4019+206del
NM_004380.2:c.4133+205_4133+206del NP_004371.2:n.4133+205_4133+206del
XM_005255124.3:c.4088+205_4088+206del XP_005255181.1:n.4088+205_4088+206del
XM_005255125.3:c.3716+205_3716+206del XP_005255182.1:n.3716+205_3716+206del
XM_006720848.2:c.4133+205_4133+206del XP_006720911.1:n.4133+205_4133+206del
XM_011522380.1:c.4079+205_4079+206del XP_011520682.1:n.4079+205_4079+206del
XM_011522381.1:c.3380+205_3380+206del XP_011520683.1:n.3380+205_3380+206del
XM_005255124.4:c.4088+205_4088+206del XP_005255181.1:n.4088+205_4088+206del
XM_005255125.4:c.3716+205_3716+206del XP_005255182.1:n.3716+205_3716+206del
XM_006720848.3:c.4133+205_4133+206del XP_006720911.1:n.4133+205_4133+206del
XM_011522381.2:c.3380+205_3380+206del XP_011520683.1:n.3380+205_3380+206del
XM_017022944.1:c.4127+205_4127+206del XP_016878433.1:n.4127+205_4127+206del
NM_004380.3:c.4133+205_4133+206del MANE Select NP_004371.2:n.4133+205_4133+206del