Canonical Allele Identifier: CA2631401860

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736977-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736980dup , CM000678.2:g.3736980dup	GRCh38
NC_000016.9:g.3786981dup , CM000678.1:g.3786981dup	GRCh37
NC_000016.8:g.3726982dup	NCBI36
NG_009873.1:g.148143dup
NG_009873.2:g.148736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-163dup MANE Select	ENSP00000262367.5:n.4395-163dup
ENST00000262367.9:c.4395-163dup	ENSP00000262367.5:n.4395-163dup
ENST00000382070.7:c.4281-163dup	ENSP00000371502.3:n.4281-163dup
ENST00000570939.2:c.3030-163dup	ENSP00000461002.2:n.3030-163dup
ENST00000571763.5:n.22dup
ENST00000574740.1:n.216-163dup
ENST00000576720.1:n.3218-163dup
NM_001079846.1:c.4281-163dup	NP_001073315.1:n.4281-163dup
NM_004380.2:c.4395-163dup	NP_004371.2:n.4395-163dup
XM_005255124.3:c.4350-163dup	XP_005255181.1:n.4350-163dup
XM_005255125.3:c.3978-163dup	XP_005255182.1:n.3978-163dup
XM_006720848.2:c.4134-163dup	XP_006720911.1:n.4134-163dup
XM_011522380.1:c.4341-163dup	XP_011520682.1:n.4341-163dup
XM_011522381.1:c.3642-163dup	XP_011520683.1:n.3642-163dup
XM_005255124.4:c.4350-163dup	XP_005255181.1:n.4350-163dup
XM_005255125.4:c.3978-163dup	XP_005255182.1:n.3978-163dup
XM_006720848.3:c.4134-163dup	XP_006720911.1:n.4134-163dup
XM_011522381.2:c.3642-163dup	XP_011520683.1:n.3642-163dup
XM_017022944.1:c.4389-163dup	XP_016878433.1:n.4389-163dup
NM_004380.3:c.4395-163dup MANE Select	NP_004371.2:n.4395-163dup