Canonical Allele Identifier: CA2695222634

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736810del , CM000678.2:g.3736810del	GRCh38
NC_000016.9:g.3786811del , CM000678.1:g.3786811del	GRCh37
NC_000016.8:g.3726812del	NCBI36
NG_009873.1:g.148311del
NG_009873.2:g.148904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4400del MANE Select	ENSP00000262367.5:p.Val1467GlyfsTer?
ENST00000262367.9:c.4400del	ENSP00000262367.5:p.Val1467GlyfsTer?
ENST00000382070.7:c.4286del	ENSP00000371502.3:p.Val1429GlyfsTer?
ENST00000570939.2:c.3035del	ENSP00000461002.2:p.Val1012GlyfsTer?
ENST00000571763.5:n.190del
ENST00000574740.1:n.221del
ENST00000576720.1:n.3223del
NM_001079846.1:c.4286del	NP_001073315.1:p.Val1429GlyfsTer?
NM_004380.2:c.4400del	NP_004371.2:p.Val1467GlyfsTer?
XM_005255124.3:c.4355del	XP_005255181.1:p.Val1452GlyfsTer?
XM_005255125.3:c.3983del	XP_005255182.1:p.Val1328GlyfsTer?
XM_006720848.2:c.4139del	XP_006720911.1:p.Val1380GlyfsTer?
XM_011522380.1:c.4346del	XP_011520682.1:p.Val1449GlyfsTer?
XM_011522381.1:c.3647del	XP_011520683.1:p.Val1216GlyfsTer?
XM_005255124.4:c.4355del	XP_005255181.1:p.Val1452GlyfsTer?
XM_005255125.4:c.3983del	XP_005255182.1:p.Val1328GlyfsTer?
XM_006720848.3:c.4139del	XP_006720911.1:p.Val1380GlyfsTer?
XM_011522381.2:c.3647del	XP_011520683.1:p.Val1216GlyfsTer?
XM_017022944.1:c.4394del	XP_016878433.1:p.Val1465GlyfsTer?
NM_004380.3:c.4400del MANE Select	NP_004371.2:p.Val1467GlyfsTer?