Canonical Allele Identifier: CA720728891

Gene: CREBBP

Linked Data

• dbSNP Id: rs1344959310
• gnomAD v3: 16-3740141-GTAA-G
• gnomAD v4: 16-3740141-GTAA-G
• MyVariant Identifiers: chr16:g.3790143_3790145del (hg19) ; chr16:g.3740142_3740144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740148_3740150del , CM000678.2:g.3740148_3740150del	GRCh38
NC_000016.9:g.3790149_3790151del , CM000678.1:g.3790149_3790151del	GRCh37
NC_000016.8:g.3730150_3730152del	NCBI36
NG_009873.1:g.144977_144979del
NG_009873.2:g.145570_145572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+255_4133+257del MANE Select	ENSP00000262367.5:n.4133+255_4133+257del
ENST00000262367.9:c.4133+255_4133+257del	ENSP00000262367.5:n.4133+255_4133+257del
ENST00000382070.7:c.4019+255_4019+257del	ENSP00000371502.3:n.4019+255_4019+257del
ENST00000570939.2:c.2768+255_2768+257del	ENSP00000461002.2:n.2768+255_2768+257del
ENST00000573517.6:c.439+255_439+257del
ENST00000574740.1:n.215+255_215+257del
ENST00000576720.1:n.3070+255_3070+257del
NM_001079846.1:c.4019+255_4019+257del	NP_001073315.1:n.4019+255_4019+257del
NM_004380.2:c.4133+255_4133+257del	NP_004371.2:n.4133+255_4133+257del
XM_005255124.3:c.4088+255_4088+257del	XP_005255181.1:n.4088+255_4088+257del
XM_005255125.3:c.3716+255_3716+257del	XP_005255182.1:n.3716+255_3716+257del
XM_006720848.2:c.4133+255_4133+257del	XP_006720911.1:n.4133+255_4133+257del
XM_011522380.1:c.4079+255_4079+257del	XP_011520682.1:n.4079+255_4079+257del
XM_011522381.1:c.3380+255_3380+257del	XP_011520683.1:n.3380+255_3380+257del
XM_005255124.4:c.4088+255_4088+257del	XP_005255181.1:n.4088+255_4088+257del
XM_005255125.4:c.3716+255_3716+257del	XP_005255182.1:n.3716+255_3716+257del
XM_006720848.3:c.4133+255_4133+257del	XP_006720911.1:n.4133+255_4133+257del
XM_011522381.2:c.3380+255_3380+257del	XP_011520683.1:n.3380+255_3380+257del
XM_017022944.1:c.4127+255_4127+257del	XP_016878433.1:n.4127+255_4127+257del
NM_004380.3:c.4133+255_4133+257del MANE Select	NP_004371.2:n.4133+255_4133+257del