Canonical Allele Identifier: CA2575893801

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727710-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727713_3727714del , CM000678.2:g.3727713_3727714del	GRCh38
NC_000016.9:g.3777714_3777715del , CM000678.1:g.3777714_3777715del	GRCh37
NC_000016.8:g.3717715_3717716del	NCBI36
NG_009873.1:g.157409_157410del
NG_009873.2:g.158002_158003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.*6_*7del MANE Select	ENSP00000262367.5:n.*6_*7del
ENST00000262367.9:c.*6_*7del	ENSP00000262367.5:n.*6_*7del
ENST00000382070.7:c.*6_*7del	ENSP00000371502.3:n.*6_*7del
NM_001079846.1:c.*6_*7del	NP_001073315.1:n.*6_*7del
NM_004380.2:c.*6_*7del	NP_004371.2:n.*6_*7del
XM_005255124.3:c.*6_*7del	XP_005255181.1:n.*6_*7del
XM_005255125.3:c.*6_*7del	XP_005255182.1:n.*6_*7del
XM_006720848.2:c.*6_*7del	XP_006720911.1:n.*6_*7del
XM_011522380.1:c.*6_*7del	XP_011520682.1:n.*6_*7del
XM_011522381.1:c.*6_*7del	XP_011520683.1:n.*6_*7del
XM_005255124.4:c.*6_*7del	XP_005255181.1:n.*6_*7del
XM_005255125.4:c.*6_*7del	XP_005255182.1:n.*6_*7del
XM_006720848.3:c.*6_*7del	XP_006720911.1:n.*6_*7del
XM_011522381.2:c.*6_*7del	XP_011520683.1:n.*6_*7del
XM_017022944.1:c.*6_*7del	XP_016878433.1:n.*6_*7del
NM_004380.3:c.*6_*7del MANE Select	NP_004371.2:n.*6_*7del