Canonical Allele Identifier: CA2631401330

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736385-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736385_3736386insA , CM000678.2:g.3736385_3736386insA	GRCh38
NC_000016.9:g.3786386_3786387insA , CM000678.1:g.3786386_3786387insA	GRCh37
NC_000016.8:g.3726387_3726388insA	NCBI36
NG_009873.1:g.148735_148736insT
NG_009873.2:g.149328_149329insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-183_4561-182insT MANE Select	ENSP00000262367.5:n.4561-183_4561-182insT
ENST00000262367.9:c.4561-183_4561-182insT	ENSP00000262367.5:n.4561-183_4561-182insT
ENST00000382070.7:c.4447-183_4447-182insT	ENSP00000371502.3:n.4447-183_4447-182insT
ENST00000570939.2:c.3196-183_3196-182insT	ENSP00000461002.2:n.3196-183_3196-182insT
ENST00000571763.5:n.351-183_351-182insT
ENST00000576720.1:n.3384-183_3384-182insT
NM_001079846.1:c.4447-183_4447-182insT	NP_001073315.1:n.4447-183_4447-182insT
NM_004380.2:c.4561-183_4561-182insT	NP_004371.2:n.4561-183_4561-182insT
XM_005255124.3:c.4516-183_4516-182insT	XP_005255181.1:n.4516-183_4516-182insT
XM_005255125.3:c.4144-183_4144-182insT	XP_005255182.1:n.4144-183_4144-182insT
XM_006720848.2:c.4300-183_4300-182insT	XP_006720911.1:n.4300-183_4300-182insT
XM_011522380.1:c.4507-183_4507-182insT	XP_011520682.1:n.4507-183_4507-182insT
XM_011522381.1:c.3808-183_3808-182insT	XP_011520683.1:n.3808-183_3808-182insT
XM_005255124.4:c.4516-183_4516-182insT	XP_005255181.1:n.4516-183_4516-182insT
XM_005255125.4:c.4144-183_4144-182insT	XP_005255182.1:n.4144-183_4144-182insT
XM_006720848.3:c.4300-183_4300-182insT	XP_006720911.1:n.4300-183_4300-182insT
XM_011522381.2:c.3808-183_3808-182insT	XP_011520683.1:n.3808-183_3808-182insT
XM_017022944.1:c.4555-183_4555-182insT	XP_016878433.1:n.4555-183_4555-182insT
NM_004380.3:c.4561-183_4561-182insT MANE Select	NP_004371.2:n.4561-183_4561-182insT