Canonical Allele Identifier: CA2631401172

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727745-CGTGTCCCCCGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727754_3727765del , CM000678.2:g.3727754_3727765del	GRCh38
NC_000016.9:g.3777755_3777766del , CM000678.1:g.3777755_3777766del	GRCh37
NC_000016.8:g.3717756_3717767del	NCBI36
NG_009873.1:g.157364_157375del
NG_009873.2:g.157957_157968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7290_7301del MANE Select	ENSP00000262367.5:p.Thr2431_Thr2434del
ENST00000262367.9:c.7290_7301del	ENSP00000262367.5:p.Thr2431_Thr2434del
ENST00000382070.7:c.7176_7187del	ENSP00000371502.3:p.Thr2393_Thr2396del
NM_001079846.1:c.7176_7187del	NP_001073315.1:p.Thr2393_Thr2396del
NM_004380.2:c.7290_7301del	NP_004371.2:p.Thr2431_Thr2434del
XM_005255124.3:c.7245_7256del	XP_005255181.1:p.Thr2416_Thr2419del
XM_005255125.3:c.6873_6884del	XP_005255182.1:p.Thr2292_Thr2295del
XM_006720848.2:c.7029_7040del	XP_006720911.1:p.Thr2344_Thr2347del
XM_011522380.1:c.7236_7247del	XP_011520682.1:p.Thr2413_Thr2416del
XM_011522381.1:c.6537_6548del	XP_011520683.1:p.Thr2180_Thr2183del
XM_005255124.4:c.7245_7256del	XP_005255181.1:p.Thr2416_Thr2419del
XM_005255125.4:c.6873_6884del	XP_005255182.1:p.Thr2292_Thr2295del
XM_006720848.3:c.7029_7040del	XP_006720911.1:p.Thr2344_Thr2347del
XM_011522381.2:c.6537_6548del	XP_011520683.1:p.Thr2180_Thr2183del
XM_017022944.1:c.7284_7295del	XP_016878433.1:p.Thr2429_Thr2432del
NM_004380.3:c.7290_7301del MANE Select	NP_004371.2:p.Thr2431_Thr2434del