Canonical Allele Identifier: CA620462618

Gene: CREBBP

Linked Data

• dbSNP Id: rs1455183824
• gnomAD v2: 16-3842060-GA-G
• MyVariant Identifiers: chr16:g.3842061del (hg19) ; chr16:g.3792060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792060del , CM000678.2:g.3792060del	GRCh38
NC_000016.9:g.3842061del , CM000678.1:g.3842061del	GRCh37
NC_000016.8:g.3782062del	NCBI36
NG_009873.1:g.93061del
NG_009873.2:g.93654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1251del MANE Select	ENSP00000262367.5:p.His418IlefsTer16
ENST00000262367.9:c.1251del	ENSP00000262367.5:p.His418IlefsTer16
ENST00000382070.7:c.1216+1326del	ENSP00000371502.3:n.1216+1326del
NM_001079846.1:c.1216+1326del	NP_001073315.1:n.1216+1326del
NM_004380.2:c.1251del	NP_004371.2:p.His418IlefsTer16
XM_005255124.3:c.1251del	XP_005255181.1:p.His418IlefsTer16
XM_005255125.3:c.1251del	XP_005255182.1:p.His418IlefsTer16
XM_006720848.2:c.1251del	XP_006720911.1:p.His418IlefsTer16
XM_011522380.1:c.1197del	XP_011520682.1:p.His400IlefsTer16
XM_011522381.1:c.498del	XP_011520683.1:p.His167IlefsTer16
XM_011522382.1:c.1251del	XP_011520684.1:p.His418IlefsTer16
XM_005255124.4:c.1251del	XP_005255181.1:p.His418IlefsTer16
XM_005255125.4:c.1251del	XP_005255182.1:p.His418IlefsTer16
XM_006720848.3:c.1251del	XP_006720911.1:p.His418IlefsTer16
XM_011522381.2:c.498del	XP_011520683.1:p.His167IlefsTer16
XM_011522382.3:c.1251del	XP_011520684.1:p.His418IlefsTer16
XM_017022944.1:c.1251del	XP_016878433.1:p.His418IlefsTer16
NM_004380.3:c.1251del MANE Select	NP_004371.2:p.His418IlefsTer16