Canonical Allele Identifier: CA620714464

Gene: CREBBP

Linked Data

• dbSNP Id: rs1169440935
• gnomAD v2: 16-3780082-ATCATGGACAACATGG-A
• gnomAD v3: 16-3730081-ATCATGGACAACATGG-A
• gnomAD v4: 16-3730081-ATCATGGACAACATGG-A
• MyVariant Identifiers: chr16:g.3780083_3780097del (hg19) ; chr16:g.3730082_3730096del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730082_3730096del , CM000678.2:g.3730082_3730096del	GRCh38
NC_000016.9:g.3780083_3780097del , CM000678.1:g.3780083_3780097del	GRCh37
NC_000016.8:g.3720084_3720098del	NCBI36
NG_009873.1:g.155025_155039del
NG_009873.2:g.155618_155632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-222_5173-208del MANE Select	ENSP00000262367.5:n.5173-222_5173-208del
ENST00000262367.9:c.5173-222_5173-208del	ENSP00000262367.5:n.5173-222_5173-208del
ENST00000382070.7:c.5059-222_5059-208del	ENSP00000371502.3:n.5059-222_5059-208del
NM_001079846.1:c.5059-222_5059-208del	NP_001073315.1:n.5059-222_5059-208del
NM_004380.2:c.5173-222_5173-208del	NP_004371.2:n.5173-222_5173-208del
XM_005255124.3:c.5128-222_5128-208del	XP_005255181.1:n.5128-222_5128-208del
XM_005255125.3:c.4756-222_4756-208del	XP_005255182.1:n.4756-222_4756-208del
XM_006720848.2:c.4912-222_4912-208del	XP_006720911.1:n.4912-222_4912-208del
XM_011522380.1:c.5119-222_5119-208del	XP_011520682.1:n.5119-222_5119-208del
XM_011522381.1:c.4420-222_4420-208del	XP_011520683.1:n.4420-222_4420-208del
XM_005255124.4:c.5128-222_5128-208del	XP_005255181.1:n.5128-222_5128-208del
XM_005255125.4:c.4756-222_4756-208del	XP_005255182.1:n.4756-222_4756-208del
XM_006720848.3:c.4912-222_4912-208del	XP_006720911.1:n.4912-222_4912-208del
XM_011522381.2:c.4420-222_4420-208del	XP_011520683.1:n.4420-222_4420-208del
XM_017022944.1:c.5167-222_5167-208del	XP_016878433.1:n.5167-222_5167-208del
NM_004380.3:c.5173-222_5173-208del MANE Select	NP_004371.2:n.5173-222_5173-208del