Canonical Allele Identifier: CA2631401197

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736267-ACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736272_3736309del , CM000678.2:g.3736272_3736309del	GRCh38
NC_000016.9:g.3786273_3786310del , CM000678.1:g.3786273_3786310del	GRCh37
NC_000016.8:g.3726274_3726311del	NCBI36
NG_009873.1:g.148816_148853del
NG_009873.2:g.149409_149446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-102_4561-65del MANE Select	ENSP00000262367.5:n.4561-102_4561-65del
ENST00000262367.9:c.4561-102_4561-65del	ENSP00000262367.5:n.4561-102_4561-65del
ENST00000382070.7:c.4447-102_4447-65del	ENSP00000371502.3:n.4447-102_4447-65del
ENST00000570939.2:c.3196-102_3196-65del	ENSP00000461002.2:n.3196-102_3196-65del
ENST00000571763.5:n.351-102_351-65del
ENST00000576720.1:n.3384-102_3384-65del
NM_001079846.1:c.4447-102_4447-65del	NP_001073315.1:n.4447-102_4447-65del
NM_004380.2:c.4561-102_4561-65del	NP_004371.2:n.4561-102_4561-65del
XM_005255124.3:c.4516-102_4516-65del	XP_005255181.1:n.4516-102_4516-65del
XM_005255125.3:c.4144-102_4144-65del	XP_005255182.1:n.4144-102_4144-65del
XM_006720848.2:c.4300-102_4300-65del	XP_006720911.1:n.4300-102_4300-65del
XM_011522380.1:c.4507-102_4507-65del	XP_011520682.1:n.4507-102_4507-65del
XM_011522381.1:c.3808-102_3808-65del	XP_011520683.1:n.3808-102_3808-65del
XM_005255124.4:c.4516-102_4516-65del	XP_005255181.1:n.4516-102_4516-65del
XM_005255125.4:c.4144-102_4144-65del	XP_005255182.1:n.4144-102_4144-65del
XM_006720848.3:c.4300-102_4300-65del	XP_006720911.1:n.4300-102_4300-65del
XM_011522381.2:c.3808-102_3808-65del	XP_011520683.1:n.3808-102_3808-65del
XM_017022944.1:c.4555-102_4555-65del	XP_016878433.1:n.4555-102_4555-65del
NM_004380.3:c.4561-102_4561-65del MANE Select	NP_004371.2:n.4561-102_4561-65del