Canonical Allele Identifier: CA2631399315

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3730011-CGAGCACGGACAGGTGGGAGACCCGGACAGGGCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730023_3730056del , CM000678.2:g.3730023_3730056del	GRCh38
NC_000016.9:g.3780024_3780057del , CM000678.1:g.3780024_3780057del	GRCh37
NC_000016.8:g.3720025_3720058del	NCBI36
NG_009873.1:g.155076_155109del
NG_009873.2:g.155669_155702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-171_5173-138del MANE Select	ENSP00000262367.5:n.5173-171_5173-138del
ENST00000262367.9:c.5173-171_5173-138del	ENSP00000262367.5:n.5173-171_5173-138del
ENST00000382070.7:c.5059-171_5059-138del	ENSP00000371502.3:n.5059-171_5059-138del
NM_001079846.1:c.5059-171_5059-138del	NP_001073315.1:n.5059-171_5059-138del
NM_004380.2:c.5173-171_5173-138del	NP_004371.2:n.5173-171_5173-138del
XM_005255124.3:c.5128-171_5128-138del	XP_005255181.1:n.5128-171_5128-138del
XM_005255125.3:c.4756-171_4756-138del	XP_005255182.1:n.4756-171_4756-138del
XM_006720848.2:c.4912-171_4912-138del	XP_006720911.1:n.4912-171_4912-138del
XM_011522380.1:c.5119-171_5119-138del	XP_011520682.1:n.5119-171_5119-138del
XM_011522381.1:c.4420-171_4420-138del	XP_011520683.1:n.4420-171_4420-138del
XM_005255124.4:c.5128-171_5128-138del	XP_005255181.1:n.5128-171_5128-138del
XM_005255125.4:c.4756-171_4756-138del	XP_005255182.1:n.4756-171_4756-138del
XM_006720848.3:c.4912-171_4912-138del	XP_006720911.1:n.4912-171_4912-138del
XM_011522381.2:c.4420-171_4420-138del	XP_011520683.1:n.4420-171_4420-138del
XM_017022944.1:c.5167-171_5167-138del	XP_016878433.1:n.5167-171_5167-138del
NM_004380.3:c.5173-171_5173-138del MANE Select	NP_004371.2:n.5173-171_5173-138del