Canonical Allele Identifier: CA620714456

Gene: CREBBP

Linked Data

• dbSNP Id: rs1181039448
• gnomAD v2: 16-3780058-AGATGGGATCATGGACGG-A
• gnomAD v3: 16-3730057-AGATGGGATCATGGACGG-A
• gnomAD v4: 16-3730057-AGATGGGATCATGGACGG-A
• MyVariant Identifiers: chr16:g.3780059_3780075del (hg19) ; chr16:g.3730058_3730074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730073_3730089del , CM000678.2:g.3730073_3730089del	GRCh38
NC_000016.9:g.3780074_3780090del , CM000678.1:g.3780074_3780090del	GRCh37
NC_000016.8:g.3720075_3720091del	NCBI36
NG_009873.1:g.155047_155063del
NG_009873.2:g.155640_155656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-200_5173-184del MANE Select	ENSP00000262367.5:n.5173-200_5173-184del
ENST00000262367.9:c.5173-200_5173-184del	ENSP00000262367.5:n.5173-200_5173-184del
ENST00000382070.7:c.5059-200_5059-184del	ENSP00000371502.3:n.5059-200_5059-184del
NM_001079846.1:c.5059-200_5059-184del	NP_001073315.1:n.5059-200_5059-184del
NM_004380.2:c.5173-200_5173-184del	NP_004371.2:n.5173-200_5173-184del
XM_005255124.3:c.5128-200_5128-184del	XP_005255181.1:n.5128-200_5128-184del
XM_005255125.3:c.4756-200_4756-184del	XP_005255182.1:n.4756-200_4756-184del
XM_006720848.2:c.4912-200_4912-184del	XP_006720911.1:n.4912-200_4912-184del
XM_011522380.1:c.5119-200_5119-184del	XP_011520682.1:n.5119-200_5119-184del
XM_011522381.1:c.4420-200_4420-184del	XP_011520683.1:n.4420-200_4420-184del
XM_005255124.4:c.5128-200_5128-184del	XP_005255181.1:n.5128-200_5128-184del
XM_005255125.4:c.4756-200_4756-184del	XP_005255182.1:n.4756-200_4756-184del
XM_006720848.3:c.4912-200_4912-184del	XP_006720911.1:n.4912-200_4912-184del
XM_011522381.2:c.4420-200_4420-184del	XP_011520683.1:n.4420-200_4420-184del
XM_017022944.1:c.5167-200_5167-184del	XP_016878433.1:n.5167-200_5167-184del
NM_004380.3:c.5173-200_5173-184del MANE Select	NP_004371.2:n.5173-200_5173-184del