Canonical Allele Identifier: CA2202953560

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053516770

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791934_3791938del , CM000678.2:g.3791934_3791938del	GRCh38
NC_000016.9:g.3841935_3841939del , CM000678.1:g.3841935_3841939del	GRCh37
NC_000016.8:g.3781936_3781940del	NCBI36
NG_009873.1:g.93183_93187del
NG_009873.2:g.93776_93780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+43_1330+47del MANE Select	ENSP00000262367.5:n.1330+43_1330+47del
ENST00000262367.9:c.1330+43_1330+47del	ENSP00000262367.5:n.1330+43_1330+47del
ENST00000382070.7:c.1216+1448_1216+1452del	ENSP00000371502.3:n.1216+1448_1216+1452del
NM_001079846.1:c.1216+1448_1216+1452del	NP_001073315.1:n.1216+1448_1216+1452del
NM_004380.2:c.1330+43_1330+47del	NP_004371.2:n.1330+43_1330+47del
XM_005255124.3:c.1330+43_1330+47del	XP_005255181.1:n.1330+43_1330+47del
XM_005255125.3:c.1330+43_1330+47del	XP_005255182.1:n.1330+43_1330+47del
XM_006720848.2:c.1330+43_1330+47del	XP_006720911.1:n.1330+43_1330+47del
XM_011522380.1:c.1276+43_1276+47del	XP_011520682.1:n.1276+43_1276+47del
XM_011522381.1:c.577+43_577+47del	XP_011520683.1:n.577+43_577+47del
XM_011522382.1:c.1330+43_1330+47del	XP_011520684.1:n.1330+43_1330+47del
XM_005255124.4:c.1330+43_1330+47del	XP_005255181.1:n.1330+43_1330+47del
XM_005255125.4:c.1330+43_1330+47del	XP_005255182.1:n.1330+43_1330+47del
XM_006720848.3:c.1330+43_1330+47del	XP_006720911.1:n.1330+43_1330+47del
XM_011522381.2:c.577+43_577+47del	XP_011520683.1:n.577+43_577+47del
XM_011522382.3:c.1330+43_1330+47del	XP_011520684.1:n.1330+43_1330+47del
XM_017022944.1:c.1330+43_1330+47del	XP_016878433.1:n.1330+43_1330+47del
NM_004380.3:c.1330+43_1330+47del MANE Select	NP_004371.2:n.1330+43_1330+47del