Canonical Allele Identifier: CA2202940664

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052170743
• gnomAD v4: 16-3740290-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740292_3740293del , CM000678.2:g.3740292_3740293del	GRCh38
NC_000016.9:g.3790293_3790294del , CM000678.1:g.3790293_3790294del	GRCh37
NC_000016.8:g.3730294_3730295del	NCBI36
NG_009873.1:g.144829_144830del
NG_009873.2:g.145422_145423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+107_4133+108del MANE Select	ENSP00000262367.5:n.4133+107_4133+108del
ENST00000262367.9:c.4133+107_4133+108del	ENSP00000262367.5:n.4133+107_4133+108del
ENST00000382070.7:c.4019+107_4019+108del	ENSP00000371502.3:n.4019+107_4019+108del
ENST00000570939.2:c.2768+107_2768+108del	ENSP00000461002.2:n.2768+107_2768+108del
ENST00000573517.6:c.439+107_439+108del
ENST00000574740.1:n.215+107_215+108del
ENST00000576720.1:n.3070+107_3070+108del
NM_001079846.1:c.4019+107_4019+108del	NP_001073315.1:n.4019+107_4019+108del
NM_004380.2:c.4133+107_4133+108del	NP_004371.2:n.4133+107_4133+108del
XM_005255124.3:c.4088+107_4088+108del	XP_005255181.1:n.4088+107_4088+108del
XM_005255125.3:c.3716+107_3716+108del	XP_005255182.1:n.3716+107_3716+108del
XM_006720848.2:c.4133+107_4133+108del	XP_006720911.1:n.4133+107_4133+108del
XM_011522380.1:c.4079+107_4079+108del	XP_011520682.1:n.4079+107_4079+108del
XM_011522381.1:c.3380+107_3380+108del	XP_011520683.1:n.3380+107_3380+108del
XM_005255124.4:c.4088+107_4088+108del	XP_005255181.1:n.4088+107_4088+108del
XM_005255125.4:c.3716+107_3716+108del	XP_005255182.1:n.3716+107_3716+108del
XM_006720848.3:c.4133+107_4133+108del	XP_006720911.1:n.4133+107_4133+108del
XM_011522381.2:c.3380+107_3380+108del	XP_011520683.1:n.3380+107_3380+108del
XM_017022944.1:c.4127+107_4127+108del	XP_016878433.1:n.4127+107_4127+108del
NM_004380.3:c.4133+107_4133+108del MANE Select	NP_004371.2:n.4133+107_4133+108del