Canonical Allele Identifier: CA2805632991

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729966_3729976del , CM000678.2:g.3729966_3729976del	GRCh38
NC_000016.9:g.3779967_3779977del , CM000678.1:g.3779967_3779977del	GRCh37
NC_000016.8:g.3719968_3719978del	NCBI36
NG_009873.1:g.155147_155157del
NG_009873.2:g.155740_155750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-100_5173-90del MANE Select	ENSP00000262367.5:n.5173-100_5173-90del
ENST00000262367.9:c.5173-100_5173-90del	ENSP00000262367.5:n.5173-100_5173-90del
ENST00000382070.7:c.5059-100_5059-90del	ENSP00000371502.3:n.5059-100_5059-90del
NM_001079846.1:c.5059-100_5059-90del	NP_001073315.1:n.5059-100_5059-90del
NM_004380.2:c.5173-100_5173-90del	NP_004371.2:n.5173-100_5173-90del
XM_005255124.3:c.5128-100_5128-90del	XP_005255181.1:n.5128-100_5128-90del
XM_005255125.3:c.4756-100_4756-90del	XP_005255182.1:n.4756-100_4756-90del
XM_006720848.2:c.4912-100_4912-90del	XP_006720911.1:n.4912-100_4912-90del
XM_011522380.1:c.5119-100_5119-90del	XP_011520682.1:n.5119-100_5119-90del
XM_011522381.1:c.4420-100_4420-90del	XP_011520683.1:n.4420-100_4420-90del
XM_005255124.4:c.5128-100_5128-90del	XP_005255181.1:n.5128-100_5128-90del
XM_005255125.4:c.4756-100_4756-90del	XP_005255182.1:n.4756-100_4756-90del
XM_006720848.3:c.4912-100_4912-90del	XP_006720911.1:n.4912-100_4912-90del
XM_011522381.2:c.4420-100_4420-90del	XP_011520683.1:n.4420-100_4420-90del
XM_017022944.1:c.5167-100_5167-90del	XP_016878433.1:n.5167-100_5167-90del
NM_004380.3:c.5173-100_5173-90del MANE Select	NP_004371.2:n.5173-100_5173-90del