Canonical Allele Identifier: CA1139654943

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729481_3729501del , CM000678.2:g.3729481_3729501del	GRCh38
NC_000016.9:g.3779482_3779502del , CM000678.1:g.3779482_3779502del	GRCh37
NC_000016.8:g.3719483_3719503del	NCBI36
NG_009873.1:g.155623_155643del
NG_009873.2:g.156216_156236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5549_5569del MANE Select	ENSP00000262367.5:p.Leu1850_Gln1856del
ENST00000262367.9:c.5549_5569del	ENSP00000262367.5:p.Leu1850_Gln1856del
ENST00000382070.7:c.5435_5455del	ENSP00000371502.3:p.Leu1812_Gln1818del
NM_001079846.1:c.5435_5455del	NP_001073315.1:p.Leu1812_Gln1818del
NM_004380.2:c.5549_5569del	NP_004371.2:p.Leu1850_Gln1856del
XM_005255124.3:c.5504_5524del	XP_005255181.1:p.Leu1835_Gln1841del
XM_005255125.3:c.5132_5152del	XP_005255182.1:p.Leu1711_Gln1717del
XM_006720848.2:c.5288_5308del	XP_006720911.1:p.Leu1763_Gln1769del
XM_011522380.1:c.5495_5515del	XP_011520682.1:p.Leu1832_Gln1838del
XM_011522381.1:c.4796_4816del	XP_011520683.1:p.Leu1599_Gln1605del
XM_005255124.4:c.5504_5524del	XP_005255181.1:p.Leu1835_Gln1841del
XM_005255125.4:c.5132_5152del	XP_005255182.1:p.Leu1711_Gln1717del
XM_006720848.3:c.5288_5308del	XP_006720911.1:p.Leu1763_Gln1769del
XM_011522381.2:c.4796_4816del	XP_011520683.1:p.Leu1599_Gln1605del
XM_017022944.1:c.5543_5563del	XP_016878433.1:p.Leu1848_Gln1854del
NM_004380.3:c.5549_5569del MANE Select	NP_004371.2:p.Leu1850_Gln1856del