Canonical Allele Identifier: CA2631401579

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728123-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728127del , CM000678.2:g.3728127del	GRCh38
NC_000016.9:g.3778128del , CM000678.1:g.3778128del	GRCh37
NC_000016.8:g.3718129del	NCBI36
NG_009873.1:g.156997del
NG_009873.2:g.157590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6923del MANE Select	ENSP00000262367.5:p.Pro2308GlnfsTer7
ENST00000262367.9:c.6923del	ENSP00000262367.5:p.Pro2308GlnfsTer7
ENST00000382070.7:c.6809del	ENSP00000371502.3:p.Pro2270GlnfsTer7
NM_001079846.1:c.6809del	NP_001073315.1:p.Pro2270GlnfsTer7
NM_004380.2:c.6923del	NP_004371.2:p.Pro2308GlnfsTer7
XM_005255124.3:c.6878del	XP_005255181.1:p.Pro2293GlnfsTer7
XM_005255125.3:c.6506del	XP_005255182.1:p.Pro2169GlnfsTer7
XM_006720848.2:c.6662del	XP_006720911.1:p.Pro2221GlnfsTer7
XM_011522380.1:c.6869del	XP_011520682.1:p.Pro2290GlnfsTer7
XM_011522381.1:c.6170del	XP_011520683.1:p.Pro2057GlnfsTer7
XM_005255124.4:c.6878del	XP_005255181.1:p.Pro2293GlnfsTer7
XM_005255125.4:c.6506del	XP_005255182.1:p.Pro2169GlnfsTer7
XM_006720848.3:c.6662del	XP_006720911.1:p.Pro2221GlnfsTer7
XM_011522381.2:c.6170del	XP_011520683.1:p.Pro2057GlnfsTer7
XM_017022944.1:c.6917del	XP_016878433.1:p.Pro2306GlnfsTer7
NM_004380.3:c.6923del MANE Select	NP_004371.2:p.Pro2308GlnfsTer7