Canonical Allele Identifier: CA2631429126

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3791841-C-CCTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791842_3791846dup , CM000678.2:g.3791842_3791846dup	GRCh38
NC_000016.9:g.3841843_3841847dup , CM000678.1:g.3841843_3841847dup	GRCh37
NC_000016.8:g.3781844_3781848dup	NCBI36
NG_009873.1:g.93275_93279dup
NG_009873.2:g.93868_93872dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+135_1330+139dup MANE Select	ENSP00000262367.5:n.1330+135_1330+139dup
ENST00000262367.9:c.1330+135_1330+139dup	ENSP00000262367.5:n.1330+135_1330+139dup
ENST00000382070.7:c.1216+1540_1216+1544dup	ENSP00000371502.3:n.1216+1540_1216+1544dup
NM_001079846.1:c.1216+1540_1216+1544dup	NP_001073315.1:n.1216+1540_1216+1544dup
NM_004380.2:c.1330+135_1330+139dup	NP_004371.2:n.1330+135_1330+139dup
XM_005255124.3:c.1330+135_1330+139dup	XP_005255181.1:n.1330+135_1330+139dup
XM_005255125.3:c.1330+135_1330+139dup	XP_005255182.1:n.1330+135_1330+139dup
XM_006720848.2:c.1330+135_1330+139dup	XP_006720911.1:n.1330+135_1330+139dup
XM_011522380.1:c.1276+135_1276+139dup	XP_011520682.1:n.1276+135_1276+139dup
XM_011522381.1:c.577+135_577+139dup	XP_011520683.1:n.577+135_577+139dup
XM_011522382.1:c.1330+135_1330+139dup	XP_011520684.1:n.1330+135_1330+139dup
XM_005255124.4:c.1330+135_1330+139dup	XP_005255181.1:n.1330+135_1330+139dup
XM_005255125.4:c.1330+135_1330+139dup	XP_005255182.1:n.1330+135_1330+139dup
XM_006720848.3:c.1330+135_1330+139dup	XP_006720911.1:n.1330+135_1330+139dup
XM_011522381.2:c.577+135_577+139dup	XP_011520683.1:n.577+135_577+139dup
XM_011522382.3:c.1330+135_1330+139dup	XP_011520684.1:n.1330+135_1330+139dup
XM_017022944.1:c.1330+135_1330+139dup	XP_016878433.1:n.1330+135_1330+139dup
NM_004380.3:c.1330+135_1330+139dup MANE Select	NP_004371.2:n.1330+135_1330+139dup