Canonical Allele Identifier: CA2739290745

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792003_3792006del , CM000678.2:g.3792003_3792006del	GRCh38
NC_000016.9:g.3842004_3842007del , CM000678.1:g.3842004_3842007del	GRCh37
NC_000016.8:g.3782005_3782008del	NCBI36
NG_009873.1:g.93115_93118del
NG_009873.2:g.93708_93711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1305_1308del MANE Select	ENSP00000262367.5:p.Asn435LysfsTer?
ENST00000262367.9:c.1305_1308del	ENSP00000262367.5:p.Asn435LysfsTer?
ENST00000382070.7:c.1216+1380_1216+1383del	ENSP00000371502.3:n.1216+1380_1216+1383del
NM_001079846.1:c.1216+1380_1216+1383del	NP_001073315.1:n.1216+1380_1216+1383del
NM_004380.2:c.1305_1308del	NP_004371.2:p.Asn435LysfsTer?
XM_005255124.3:c.1305_1308del	XP_005255181.1:p.Asn435LysfsTer?
XM_005255125.3:c.1305_1308del	XP_005255182.1:p.Asn435LysfsTer?
XM_006720848.2:c.1305_1308del	XP_006720911.1:p.Asn435LysfsTer?
XM_011522380.1:c.1251_1254del	XP_011520682.1:p.Asn417LysfsTer?
XM_011522381.1:c.552_555del	XP_011520683.1:p.Asn184LysfsTer?
XM_011522382.1:c.1305_1308del	XP_011520684.1:p.Asn435LysfsTer?
XM_005255124.4:c.1305_1308del	XP_005255181.1:p.Asn435LysfsTer?
XM_005255125.4:c.1305_1308del	XP_005255182.1:p.Asn435LysfsTer?
XM_006720848.3:c.1305_1308del	XP_006720911.1:p.Asn435LysfsTer?
XM_011522381.2:c.552_555del	XP_011520683.1:p.Asn184LysfsTer?
XM_011522382.3:c.1305_1308del	XP_011520684.1:p.Asn435LysfsTer?
XM_017022944.1:c.1305_1308del	XP_016878433.1:p.Asn435LysfsTer?
NM_004380.3:c.1305_1308del MANE Select	NP_004371.2:p.Asn435LysfsTer?