Canonical Allele Identifier: CA919643083

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596788747
• gnomAD v3: 16-3730042-GCGGGAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730046_3730053del , CM000678.2:g.3730046_3730053del	GRCh38
NC_000016.9:g.3780047_3780054del , CM000678.1:g.3780047_3780054del	GRCh37
NC_000016.8:g.3720048_3720055del	NCBI36
NG_009873.1:g.155071_155078del
NG_009873.2:g.155664_155671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-176_5173-169del MANE Select	ENSP00000262367.5:n.5173-176_5173-169del
ENST00000262367.9:c.5173-176_5173-169del	ENSP00000262367.5:n.5173-176_5173-169del
ENST00000382070.7:c.5059-176_5059-169del	ENSP00000371502.3:n.5059-176_5059-169del
NM_001079846.1:c.5059-176_5059-169del	NP_001073315.1:n.5059-176_5059-169del
NM_004380.2:c.5173-176_5173-169del	NP_004371.2:n.5173-176_5173-169del
XM_005255124.3:c.5128-176_5128-169del	XP_005255181.1:n.5128-176_5128-169del
XM_005255125.3:c.4756-176_4756-169del	XP_005255182.1:n.4756-176_4756-169del
XM_006720848.2:c.4912-176_4912-169del	XP_006720911.1:n.4912-176_4912-169del
XM_011522380.1:c.5119-176_5119-169del	XP_011520682.1:n.5119-176_5119-169del
XM_011522381.1:c.4420-176_4420-169del	XP_011520683.1:n.4420-176_4420-169del
XM_005255124.4:c.5128-176_5128-169del	XP_005255181.1:n.5128-176_5128-169del
XM_005255125.4:c.4756-176_4756-169del	XP_005255182.1:n.4756-176_4756-169del
XM_006720848.3:c.4912-176_4912-169del	XP_006720911.1:n.4912-176_4912-169del
XM_011522381.2:c.4420-176_4420-169del	XP_011520683.1:n.4420-176_4420-169del
XM_017022944.1:c.5167-176_5167-169del	XP_016878433.1:n.5167-176_5167-169del
NM_004380.3:c.5173-176_5173-169del MANE Select	NP_004371.2:n.5173-176_5173-169del