Canonical Allele Identifier: CA2202928776

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051819081
• gnomAD v4: 16-3728627-CTGCAGGCTGGGCTGCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728632_3728649del , CM000678.2:g.3728632_3728649del	GRCh38
NC_000016.9:g.3778633_3778650del , CM000678.1:g.3778633_3778650del	GRCh37
NC_000016.8:g.3718634_3718651del	NCBI36
NG_009873.1:g.156476_156493del
NG_009873.2:g.157069_157086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6402_6419del MANE Select	ENSP00000262367.5:p.His2134_Leu2139del
ENST00000262367.9:c.6402_6419del	ENSP00000262367.5:p.His2134_Leu2139del
ENST00000382070.7:c.6288_6305del	ENSP00000371502.3:p.His2096_Leu2101del
NM_001079846.1:c.6288_6305del	NP_001073315.1:p.His2096_Leu2101del
NM_004380.2:c.6402_6419del	NP_004371.2:p.His2134_Leu2139del
XM_005255124.3:c.6357_6374del	XP_005255181.1:p.His2119_Leu2124del
XM_005255125.3:c.5985_6002del	XP_005255182.1:p.His1995_Leu2000del
XM_006720848.2:c.6141_6158del	XP_006720911.1:p.His2047_Leu2052del
XM_011522380.1:c.6348_6365del	XP_011520682.1:p.His2116_Leu2121del
XM_011522381.1:c.5649_5666del	XP_011520683.1:p.His1883_Leu1888del
XM_005255124.4:c.6357_6374del	XP_005255181.1:p.His2119_Leu2124del
XM_005255125.4:c.5985_6002del	XP_005255182.1:p.His1995_Leu2000del
XM_006720848.3:c.6141_6158del	XP_006720911.1:p.His2047_Leu2052del
XM_011522381.2:c.5649_5666del	XP_011520683.1:p.His1883_Leu1888del
XM_017022944.1:c.6396_6413del	XP_016878433.1:p.His2132_Leu2137del
NM_004380.3:c.6402_6419del MANE Select	NP_004371.2:p.His2134_Leu2139del