Canonical Allele Identifier: CA2695222628

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729471_3729491del , CM000678.2:g.3729471_3729491del	GRCh38
NC_000016.9:g.3779472_3779492del , CM000678.1:g.3779472_3779492del	GRCh37
NC_000016.8:g.3719473_3719493del	NCBI36
NG_009873.1:g.155637_155657del
NG_009873.2:g.156230_156250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5563_5583del MANE Select	ENSP00000262367.5:p.Ile1855_Gln1861del
ENST00000262367.9:c.5563_5583del	ENSP00000262367.5:p.Ile1855_Gln1861del
ENST00000382070.7:c.5449_5469del	ENSP00000371502.3:p.Ile1817_Gln1823del
NM_001079846.1:c.5449_5469del	NP_001073315.1:p.Ile1817_Gln1823del
NM_004380.2:c.5563_5583del	NP_004371.2:p.Ile1855_Gln1861del
XM_005255124.3:c.5518_5538del	XP_005255181.1:p.Ile1840_Gln1846del
XM_005255125.3:c.5146_5166del	XP_005255182.1:p.Ile1716_Gln1722del
XM_006720848.2:c.5302_5322del	XP_006720911.1:p.Ile1768_Gln1774del
XM_011522380.1:c.5509_5529del	XP_011520682.1:p.Ile1837_Gln1843del
XM_011522381.1:c.4810_4830del	XP_011520683.1:p.Ile1604_Gln1610del
XM_005255124.4:c.5518_5538del	XP_005255181.1:p.Ile1840_Gln1846del
XM_005255125.4:c.5146_5166del	XP_005255182.1:p.Ile1716_Gln1722del
XM_006720848.3:c.5302_5322del	XP_006720911.1:p.Ile1768_Gln1774del
XM_011522381.2:c.4810_4830del	XP_011520683.1:p.Ile1604_Gln1610del
XM_017022944.1:c.5557_5577del	XP_016878433.1:p.Ile1853_Gln1859del
NM_004380.3:c.5563_5583del MANE Select	NP_004371.2:p.Ile1855_Gln1861del