Canonical Allele Identifier: CA2731576825

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728408_3728413del , CM000678.2:g.3728408_3728413del	GRCh38
NC_000016.9:g.3778409_3778414del , CM000678.1:g.3778409_3778414del	GRCh37
NC_000016.8:g.3718410_3718415del	NCBI36
NG_009873.1:g.156716_156721del
NG_009873.2:g.157309_157314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6642_6647del MANE Select	ENSP00000262367.5:p.Gln2215_Gln2216del
ENST00000262367.9:c.6642_6647del	ENSP00000262367.5:p.Gln2215_Gln2216del
ENST00000382070.7:c.6528_6533del	ENSP00000371502.3:p.Gln2177_Gln2178del
NM_001079846.1:c.6528_6533del	NP_001073315.1:p.Gln2177_Gln2178del
NM_004380.2:c.6642_6647del	NP_004371.2:p.Gln2215_Gln2216del
XM_005255124.3:c.6597_6602del	XP_005255181.1:p.Gln2200_Gln2201del
XM_005255125.3:c.6225_6230del	XP_005255182.1:p.Gln2076_Gln2077del
XM_006720848.2:c.6381_6386del	XP_006720911.1:p.Gln2128_Gln2129del
XM_011522380.1:c.6588_6593del	XP_011520682.1:p.Gln2197_Gln2198del
XM_011522381.1:c.5889_5894del	XP_011520683.1:p.Gln1964_Gln1965del
XM_005255124.4:c.6597_6602del	XP_005255181.1:p.Gln2200_Gln2201del
XM_005255125.4:c.6225_6230del	XP_005255182.1:p.Gln2076_Gln2077del
XM_006720848.3:c.6381_6386del	XP_006720911.1:p.Gln2128_Gln2129del
XM_011522381.2:c.5889_5894del	XP_011520683.1:p.Gln1964_Gln1965del
XM_017022944.1:c.6636_6641del	XP_016878433.1:p.Gln2213_Gln2214del
NM_004380.3:c.6642_6647del MANE Select	NP_004371.2:p.Gln2215_Gln2216del