Canonical Allele Identifier: CA7869228

Gene: CREBBP

Linked Data

• dbSNP Id: rs765721268
• ExAC: 16:3779135 GTGC / G
• gnomAD v2: 16-3779135-GTGC-G
• gnomAD v4: 16-3729134-GTGC-G
• MyVariant Identifiers: chr16:g.3779136_3779138del (hg19) ; chr16:g.3729136_3729138del (hg38) ; chr16:g.3729135_3729137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729146_3729148del , CM000678.2:g.3729146_3729148del	GRCh38
NC_000016.9:g.3779147_3779149del , CM000678.1:g.3779147_3779149del	GRCh37
NC_000016.8:g.3719148_3719150del	NCBI36
NG_009873.1:g.155984_155986del
NG_009873.2:g.156577_156579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5910_5912del MANE Select	ENSP00000262367.5:p.Gln1970del
ENST00000262367.9:c.5910_5912del	ENSP00000262367.5:p.Gln1970del
ENST00000382070.7:c.5796_5798del	ENSP00000371502.3:p.Gln1932del
NM_001079846.1:c.5796_5798del	NP_001073315.1:p.Gln1932del
NM_004380.2:c.5910_5912del	NP_004371.2:p.Gln1970del
XM_005255124.3:c.5865_5867del	XP_005255181.1:p.Gln1955del
XM_005255125.3:c.5493_5495del	XP_005255182.1:p.Gln1831del
XM_006720848.2:c.5649_5651del	XP_006720911.1:p.Gln1883del
XM_011522380.1:c.5856_5858del	XP_011520682.1:p.Gln1952del
XM_011522381.1:c.5157_5159del	XP_011520683.1:p.Gln1719del
XM_005255124.4:c.5865_5867del	XP_005255181.1:p.Gln1955del
XM_005255125.4:c.5493_5495del	XP_005255182.1:p.Gln1831del
XM_006720848.3:c.5649_5651del	XP_006720911.1:p.Gln1883del
XM_011522381.2:c.5157_5159del	XP_011520683.1:p.Gln1719del
XM_017022944.1:c.5904_5906del	XP_016878433.1:p.Gln1968del
NM_004380.3:c.5910_5912del MANE Select	NP_004371.2:p.Gln1970del