Canonical Allele Identifier: CA2631401429

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736469-G-GTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736469_3736470insTTC , CM000678.2:g.3736469_3736470insTTC	GRCh38
NC_000016.9:g.3786470_3786471insTTC , CM000678.1:g.3786470_3786471insTTC	GRCh37
NC_000016.8:g.3726471_3726472insTTC	NCBI36
NG_009873.1:g.148651_148652insGAA
NG_009873.2:g.149244_149245insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+180_4560+181insGAA MANE Select	ENSP00000262367.5:n.4560+180_4560+181insGAA
ENST00000262367.9:c.4560+180_4560+181insGAA	ENSP00000262367.5:n.4560+180_4560+181insGAA
ENST00000382070.7:c.4446+180_4446+181insGAA	ENSP00000371502.3:n.4446+180_4446+181insGAA
ENST00000570939.2:c.3195+180_3195+181insGAA	ENSP00000461002.2:n.3195+180_3195+181insGAA
ENST00000571763.5:n.350+180_350+181insGAA
ENST00000576720.1:n.3383+180_3383+181insGAA
NM_001079846.1:c.4446+180_4446+181insGAA	NP_001073315.1:n.4446+180_4446+181insGAA
NM_004380.2:c.4560+180_4560+181insGAA	NP_004371.2:n.4560+180_4560+181insGAA
XM_005255124.3:c.4515+180_4515+181insGAA	XP_005255181.1:n.4515+180_4515+181insGAA
XM_005255125.3:c.4143+180_4143+181insGAA	XP_005255182.1:n.4143+180_4143+181insGAA
XM_006720848.2:c.4299+180_4299+181insGAA	XP_006720911.1:n.4299+180_4299+181insGAA
XM_011522380.1:c.4506+180_4506+181insGAA	XP_011520682.1:n.4506+180_4506+181insGAA
XM_011522381.1:c.3807+180_3807+181insGAA	XP_011520683.1:n.3807+180_3807+181insGAA
XM_005255124.4:c.4515+180_4515+181insGAA	XP_005255181.1:n.4515+180_4515+181insGAA
XM_005255125.4:c.4143+180_4143+181insGAA	XP_005255182.1:n.4143+180_4143+181insGAA
XM_006720848.3:c.4299+180_4299+181insGAA	XP_006720911.1:n.4299+180_4299+181insGAA
XM_011522381.2:c.3807+180_3807+181insGAA	XP_011520683.1:n.3807+180_3807+181insGAA
XM_017022944.1:c.4554+180_4554+181insGAA	XP_016878433.1:n.4554+180_4554+181insGAA
NM_004380.3:c.4560+180_4560+181insGAA MANE Select	NP_004371.2:n.4560+180_4560+181insGAA