Canonical Allele Identifier: CA2631401615

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736724-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736725del , CM000678.2:g.3736725del	GRCh38
NC_000016.9:g.3786726del , CM000678.1:g.3786726del	GRCh37
NC_000016.8:g.3726727del	NCBI36
NG_009873.1:g.148396del
NG_009873.2:g.148989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4485del MANE Select	ENSP00000262367.5:p.Lys1495AsnfsTer?
ENST00000262367.9:c.4485del	ENSP00000262367.5:p.Lys1495AsnfsTer?
ENST00000382070.7:c.4371del	ENSP00000371502.3:p.Lys1457AsnfsTer?
ENST00000570939.2:c.3120del	ENSP00000461002.2:p.Lys1040AsnfsTer?
ENST00000571763.5:n.275del
ENST00000574740.1:n.306del
ENST00000576720.1:n.3308del
NM_001079846.1:c.4371del	NP_001073315.1:p.Lys1457AsnfsTer?
NM_004380.2:c.4485del	NP_004371.2:p.Lys1495AsnfsTer?
XM_005255124.3:c.4440del	XP_005255181.1:p.Lys1480AsnfsTer?
XM_005255125.3:c.4068del	XP_005255182.1:p.Lys1356AsnfsTer?
XM_006720848.2:c.4224del	XP_006720911.1:p.Lys1408AsnfsTer?
XM_011522380.1:c.4431del	XP_011520682.1:p.Lys1477AsnfsTer?
XM_011522381.1:c.3732del	XP_011520683.1:p.Lys1244AsnfsTer?
XM_005255124.4:c.4440del	XP_005255181.1:p.Lys1480AsnfsTer?
XM_005255125.4:c.4068del	XP_005255182.1:p.Lys1356AsnfsTer?
XM_006720848.3:c.4224del	XP_006720911.1:p.Lys1408AsnfsTer?
XM_011522381.2:c.3732del	XP_011520683.1:p.Lys1244AsnfsTer?
XM_017022944.1:c.4479del	XP_016878433.1:p.Lys1493AsnfsTer?
NM_004380.3:c.4485del MANE Select	NP_004371.2:p.Lys1495AsnfsTer?