Canonical Allele Identifier: CA2631399261

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729992-AGGAGACCCAGACAGGATGCGAGCACGGACAGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730001_3730034del , CM000678.2:g.3730001_3730034del	GRCh38
NC_000016.9:g.3780002_3780035del , CM000678.1:g.3780002_3780035del	GRCh37
NC_000016.8:g.3720003_3720036del	NCBI36
NG_009873.1:g.155095_155128del
NG_009873.2:g.155688_155721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-152_5173-119del MANE Select	ENSP00000262367.5:n.5173-152_5173-119del
ENST00000262367.9:c.5173-152_5173-119del	ENSP00000262367.5:n.5173-152_5173-119del
ENST00000382070.7:c.5059-152_5059-119del	ENSP00000371502.3:n.5059-152_5059-119del
NM_001079846.1:c.5059-152_5059-119del	NP_001073315.1:n.5059-152_5059-119del
NM_004380.2:c.5173-152_5173-119del	NP_004371.2:n.5173-152_5173-119del
XM_005255124.3:c.5128-152_5128-119del	XP_005255181.1:n.5128-152_5128-119del
XM_005255125.3:c.4756-152_4756-119del	XP_005255182.1:n.4756-152_4756-119del
XM_006720848.2:c.4912-152_4912-119del	XP_006720911.1:n.4912-152_4912-119del
XM_011522380.1:c.5119-152_5119-119del	XP_011520682.1:n.5119-152_5119-119del
XM_011522381.1:c.4420-152_4420-119del	XP_011520683.1:n.4420-152_4420-119del
XM_005255124.4:c.5128-152_5128-119del	XP_005255181.1:n.5128-152_5128-119del
XM_005255125.4:c.4756-152_4756-119del	XP_005255182.1:n.4756-152_4756-119del
XM_006720848.3:c.4912-152_4912-119del	XP_006720911.1:n.4912-152_4912-119del
XM_011522381.2:c.4420-152_4420-119del	XP_011520683.1:n.4420-152_4420-119del
XM_017022944.1:c.5167-152_5167-119del	XP_016878433.1:n.5167-152_5167-119del
NM_004380.3:c.5173-152_5173-119del MANE Select	NP_004371.2:n.5173-152_5173-119del