Canonical Allele Identifier: CA276972412

Gene: CREBBP

Linked Data

• dbSNP Id: rs371824314
• gnomAD v3: 16-3729973-CAGGAGACCCAGGCAGGAT-C
• gnomAD v4: 16-3729973-CAGGAGACCCAGGCAGGAT-C
• MyVariant Identifiers: chr16:g.3779975_3779992del (hg19) ; chr16:g.3729974_3729991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729985_3730002del , CM000678.2:g.3729985_3730002del	GRCh38
NC_000016.9:g.3779986_3780003del , CM000678.1:g.3779986_3780003del	GRCh37
NC_000016.8:g.3719987_3720004del	NCBI36
NG_009873.1:g.155130_155147del
NG_009873.2:g.155723_155740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-117_5173-100del MANE Select	ENSP00000262367.5:n.5173-117_5173-100del
ENST00000262367.9:c.5173-117_5173-100del	ENSP00000262367.5:n.5173-117_5173-100del
ENST00000382070.7:c.5059-117_5059-100del	ENSP00000371502.3:n.5059-117_5059-100del
NM_001079846.1:c.5059-117_5059-100del	NP_001073315.1:n.5059-117_5059-100del
NM_004380.2:c.5173-117_5173-100del	NP_004371.2:n.5173-117_5173-100del
XM_005255124.3:c.5128-117_5128-100del	XP_005255181.1:n.5128-117_5128-100del
XM_005255125.3:c.4756-117_4756-100del	XP_005255182.1:n.4756-117_4756-100del
XM_006720848.2:c.4912-117_4912-100del	XP_006720911.1:n.4912-117_4912-100del
XM_011522380.1:c.5119-117_5119-100del	XP_011520682.1:n.5119-117_5119-100del
XM_011522381.1:c.4420-117_4420-100del	XP_011520683.1:n.4420-117_4420-100del
XM_005255124.4:c.5128-117_5128-100del	XP_005255181.1:n.5128-117_5128-100del
XM_005255125.4:c.4756-117_4756-100del	XP_005255182.1:n.4756-117_4756-100del
XM_006720848.3:c.4912-117_4912-100del	XP_006720911.1:n.4912-117_4912-100del
XM_011522381.2:c.4420-117_4420-100del	XP_011520683.1:n.4420-117_4420-100del
XM_017022944.1:c.5167-117_5167-100del	XP_016878433.1:n.5167-117_5167-100del
NM_004380.3:c.5173-117_5173-100del MANE Select	NP_004371.2:n.5173-117_5173-100del