Canonical Allele Identifier: CA973908255

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052168710
• gnomAD v3: 16-3740219-CTG-C
• gnomAD v4: 16-3740219-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740221_3740222del , CM000678.2:g.3740221_3740222del	GRCh38
NC_000016.9:g.3790222_3790223del , CM000678.1:g.3790222_3790223del	GRCh37
NC_000016.8:g.3730223_3730224del	NCBI36
NG_009873.1:g.144900_144901del
NG_009873.2:g.145493_145494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+178_4133+179del MANE Select	ENSP00000262367.5:n.4133+178_4133+179del
ENST00000262367.9:c.4133+178_4133+179del	ENSP00000262367.5:n.4133+178_4133+179del
ENST00000382070.7:c.4019+178_4019+179del	ENSP00000371502.3:n.4019+178_4019+179del
ENST00000570939.2:c.2768+178_2768+179del	ENSP00000461002.2:n.2768+178_2768+179del
ENST00000573517.6:c.439+178_439+179del
ENST00000574740.1:n.215+178_215+179del
ENST00000576720.1:n.3070+178_3070+179del
NM_001079846.1:c.4019+178_4019+179del	NP_001073315.1:n.4019+178_4019+179del
NM_004380.2:c.4133+178_4133+179del	NP_004371.2:n.4133+178_4133+179del
XM_005255124.3:c.4088+178_4088+179del	XP_005255181.1:n.4088+178_4088+179del
XM_005255125.3:c.3716+178_3716+179del	XP_005255182.1:n.3716+178_3716+179del
XM_006720848.2:c.4133+178_4133+179del	XP_006720911.1:n.4133+178_4133+179del
XM_011522380.1:c.4079+178_4079+179del	XP_011520682.1:n.4079+178_4079+179del
XM_011522381.1:c.3380+178_3380+179del	XP_011520683.1:n.3380+178_3380+179del
XM_005255124.4:c.4088+178_4088+179del	XP_005255181.1:n.4088+178_4088+179del
XM_005255125.4:c.3716+178_3716+179del	XP_005255182.1:n.3716+178_3716+179del
XM_006720848.3:c.4133+178_4133+179del	XP_006720911.1:n.4133+178_4133+179del
XM_011522381.2:c.3380+178_3380+179del	XP_011520683.1:n.3380+178_3380+179del
XM_017022944.1:c.4127+178_4127+179del	XP_016878433.1:n.4127+178_4127+179del
NM_004380.3:c.4133+178_4133+179del MANE Select	NP_004371.2:n.4133+178_4133+179del