Canonical Allele Identifier: CA2695222627

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729462_3729482del , CM000678.2:g.3729462_3729482del	GRCh38
NC_000016.9:g.3779463_3779483del , CM000678.1:g.3779463_3779483del	GRCh37
NC_000016.8:g.3719464_3719484del	NCBI36
NG_009873.1:g.155644_155664del
NG_009873.2:g.156237_156257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5570_5590del MANE Select	ENSP00000262367.5:p.His1857_Gln1863del
ENST00000262367.9:c.5570_5590del	ENSP00000262367.5:p.His1857_Gln1863del
ENST00000382070.7:c.5456_5476del	ENSP00000371502.3:p.His1819_Gln1825del
NM_001079846.1:c.5456_5476del	NP_001073315.1:p.His1819_Gln1825del
NM_004380.2:c.5570_5590del	NP_004371.2:p.His1857_Gln1863del
XM_005255124.3:c.5525_5545del	XP_005255181.1:p.His1842_Gln1848del
XM_005255125.3:c.5153_5173del	XP_005255182.1:p.His1718_Gln1724del
XM_006720848.2:c.5309_5329del	XP_006720911.1:p.His1770_Gln1776del
XM_011522380.1:c.5516_5536del	XP_011520682.1:p.His1839_Gln1845del
XM_011522381.1:c.4817_4837del	XP_011520683.1:p.His1606_Gln1612del
XM_005255124.4:c.5525_5545del	XP_005255181.1:p.His1842_Gln1848del
XM_005255125.4:c.5153_5173del	XP_005255182.1:p.His1718_Gln1724del
XM_006720848.3:c.5309_5329del	XP_006720911.1:p.His1770_Gln1776del
XM_011522381.2:c.4817_4837del	XP_011520683.1:p.His1606_Gln1612del
XM_017022944.1:c.5564_5584del	XP_016878433.1:p.His1855_Gln1861del
NM_004380.3:c.5570_5590del MANE Select	NP_004371.2:p.His1857_Gln1863del