Canonical Allele Identifier: CA2631426934

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777674-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777678_3777681del , CM000678.2:g.3777678_3777681del	GRCh38
NC_000016.9:g.3827679_3827682del , CM000678.1:g.3827679_3827682del	GRCh37
NC_000016.8:g.3767680_3767683del	NCBI36
NG_009873.1:g.107443_107446del
NG_009873.2:g.108036_108039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2114-21_2114-18del MANE Select	ENSP00000262367.5:n.2114-21_2114-18del
ENST00000262367.9:c.2114-21_2114-18del	ENSP00000262367.5:n.2114-21_2114-18del
ENST00000382070.7:c.2000-21_2000-18del	ENSP00000371502.3:n.2000-21_2000-18del
ENST00000570939.2:c.719-21_719-18del	ENSP00000461002.2:n.719-21_719-18del
ENST00000571826.5:c.163-21_163-18del
ENST00000572134.1:c.426+333_426+336del
NM_001079846.1:c.2000-21_2000-18del	NP_001073315.1:n.2000-21_2000-18del
NM_004380.2:c.2114-21_2114-18del	NP_004371.2:n.2114-21_2114-18del
XM_005255124.3:c.2113+333_2113+336del	XP_005255181.1:n.2113+333_2113+336del
XM_005255125.3:c.2114-21_2114-18del	XP_005255182.1:n.2114-21_2114-18del
XM_006720848.2:c.2114-21_2114-18del	XP_006720911.1:n.2114-21_2114-18del
XM_011522380.1:c.2060-21_2060-18del	XP_011520682.1:n.2060-21_2060-18del
XM_011522381.1:c.1361-21_1361-18del	XP_011520683.1:n.1361-21_1361-18del
XM_011522382.1:c.2114-21_2114-18del	XP_011520684.1:n.2114-21_2114-18del
XM_005255124.4:c.2113+333_2113+336del	XP_005255181.1:n.2113+333_2113+336del
XM_005255125.4:c.2114-21_2114-18del	XP_005255182.1:n.2114-21_2114-18del
XM_006720848.3:c.2114-21_2114-18del	XP_006720911.1:n.2114-21_2114-18del
XM_011522381.2:c.1361-21_1361-18del	XP_011520683.1:n.1361-21_1361-18del
XM_011522382.3:c.2114-21_2114-18del	XP_011520684.1:n.2114-21_2114-18del
XM_017022944.1:c.2114-21_2114-18del	XP_016878433.1:n.2114-21_2114-18del
NM_004380.3:c.2114-21_2114-18del MANE Select	NP_004371.2:n.2114-21_2114-18del