Canonical Allele Identifier: CA276972469

Gene: CREBBP

Linked Data

• dbSNP Id: rs552495639
• MyVariant Identifiers: chr16:g.3780072_3780073del (hg19) ; chr16:g.3730071_3730072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730071_3730072del , CM000678.2:g.3730071_3730072del	GRCh38
NC_000016.9:g.3780072_3780073del , CM000678.1:g.3780072_3780073del	GRCh37
NC_000016.8:g.3720073_3720074del	NCBI36
NG_009873.1:g.155049_155050del
NG_009873.2:g.155642_155643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-198_5173-197del MANE Select	ENSP00000262367.5:n.5173-198_5173-197del
ENST00000262367.9:c.5173-198_5173-197del	ENSP00000262367.5:n.5173-198_5173-197del
ENST00000382070.7:c.5059-198_5059-197del	ENSP00000371502.3:n.5059-198_5059-197del
NM_001079846.1:c.5059-198_5059-197del	NP_001073315.1:n.5059-198_5059-197del
NM_004380.2:c.5173-198_5173-197del	NP_004371.2:n.5173-198_5173-197del
XM_005255124.3:c.5128-198_5128-197del	XP_005255181.1:n.5128-198_5128-197del
XM_005255125.3:c.4756-198_4756-197del	XP_005255182.1:n.4756-198_4756-197del
XM_006720848.2:c.4912-198_4912-197del	XP_006720911.1:n.4912-198_4912-197del
XM_011522380.1:c.5119-198_5119-197del	XP_011520682.1:n.5119-198_5119-197del
XM_011522381.1:c.4420-198_4420-197del	XP_011520683.1:n.4420-198_4420-197del
XM_005255124.4:c.5128-198_5128-197del	XP_005255181.1:n.5128-198_5128-197del
XM_005255125.4:c.4756-198_4756-197del	XP_005255182.1:n.4756-198_4756-197del
XM_006720848.3:c.4912-198_4912-197del	XP_006720911.1:n.4912-198_4912-197del
XM_011522381.2:c.4420-198_4420-197del	XP_011520683.1:n.4420-198_4420-197del
XM_017022944.1:c.5167-198_5167-197del	XP_016878433.1:n.5167-198_5167-197del
NM_004380.3:c.5173-198_5173-197del MANE Select	NP_004371.2:n.5173-198_5173-197del