Canonical Allele Identifier: CA2695222704

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810772_3810773del , CM000678.2:g.3810772_3810773del	GRCh38
NC_000016.9:g.3860773_3860774del , CM000678.1:g.3860773_3860774del	GRCh37
NC_000016.8:g.3800774_3800775del	NCBI36
NG_009873.1:g.74349_74350del
NG_009873.2:g.74942_74943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.806_807del MANE Select	ENSP00000262367.5:p.Ile269AsnfsTer12
ENST00000635899.1:n.48_49del
ENST00000262367.9:c.806_807del	ENSP00000262367.5:p.Ile269AsnfsTer12
ENST00000382070.7:c.806_807del	ENSP00000371502.3:p.Ile269AsnfsTer12
NM_001079846.1:c.806_807del	NP_001073315.1:p.Ile269AsnfsTer12
NM_004380.2:c.806_807del	NP_004371.2:p.Ile269AsnfsTer12
XM_005255124.3:c.806_807del	XP_005255181.1:p.Ile269AsnfsTer12
XM_005255125.3:c.806_807del	XP_005255182.1:p.Ile269AsnfsTer12
XM_006720848.2:c.806_807del	XP_006720911.1:p.Ile269AsnfsTer12
XM_011522380.1:c.752_753del	XP_011520682.1:p.Ile251AsnfsTer12
XM_011522381.1:c.53_54del	XP_011520683.1:p.Ile18AsnfsTer12
XM_011522382.1:c.806_807del	XP_011520684.1:p.Ile269AsnfsTer12
XM_005255124.4:c.806_807del	XP_005255181.1:p.Ile269AsnfsTer12
XM_005255125.4:c.806_807del	XP_005255182.1:p.Ile269AsnfsTer12
XM_006720848.3:c.806_807del	XP_006720911.1:p.Ile269AsnfsTer12
XM_011522381.2:c.53_54del	XP_011520683.1:p.Ile18AsnfsTer12
XM_011522382.3:c.806_807del	XP_011520684.1:p.Ile269AsnfsTer12
XM_017022944.1:c.806_807del	XP_016878433.1:p.Ile269AsnfsTer12
NM_004380.3:c.806_807del MANE Select	NP_004371.2:p.Ile269AsnfsTer12