Canonical Allele Identifier: CA2695222631

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736785_3736786del , CM000678.2:g.3736785_3736786del	GRCh38
NC_000016.9:g.3786786_3786787del , CM000678.1:g.3786786_3786787del	GRCh37
NC_000016.8:g.3726787_3726788del	NCBI36
NG_009873.1:g.148336_148337del
NG_009873.2:g.148929_148930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4425_4426del MANE Select	ENSP00000262367.5:p.Pro1476LysfsTer2
ENST00000262367.9:c.4425_4426del	ENSP00000262367.5:p.Pro1476LysfsTer2
ENST00000382070.7:c.4311_4312del	ENSP00000371502.3:p.Pro1438LysfsTer2
ENST00000570939.2:c.3060_3061del	ENSP00000461002.2:p.Pro1021LysfsTer2
ENST00000571763.5:n.215_216del
ENST00000574740.1:n.246_247del
ENST00000576720.1:n.3248_3249del
NM_001079846.1:c.4311_4312del	NP_001073315.1:p.Pro1438LysfsTer2
NM_004380.2:c.4425_4426del	NP_004371.2:p.Pro1476LysfsTer2
XM_005255124.3:c.4380_4381del	XP_005255181.1:p.Pro1461LysfsTer2
XM_005255125.3:c.4008_4009del	XP_005255182.1:p.Pro1337LysfsTer2
XM_006720848.2:c.4164_4165del	XP_006720911.1:p.Pro1389LysfsTer2
XM_011522380.1:c.4371_4372del	XP_011520682.1:p.Pro1458LysfsTer2
XM_011522381.1:c.3672_3673del	XP_011520683.1:p.Pro1225LysfsTer2
XM_005255124.4:c.4380_4381del	XP_005255181.1:p.Pro1461LysfsTer2
XM_005255125.4:c.4008_4009del	XP_005255182.1:p.Pro1337LysfsTer2
XM_006720848.3:c.4164_4165del	XP_006720911.1:p.Pro1389LysfsTer2
XM_011522381.2:c.3672_3673del	XP_011520683.1:p.Pro1225LysfsTer2
XM_017022944.1:c.4419_4420del	XP_016878433.1:p.Pro1474LysfsTer2
NM_004380.3:c.4425_4426del MANE Select	NP_004371.2:p.Pro1476LysfsTer2