Canonical Allele Identifier: CA720718953

Gene: CREBBP

Linked Data

• dbSNP Id: rs1313312406
• gnomAD v4: 16-3729956-TAA-T
• MyVariant Identifiers: chr16:g.3779958_3779959del (hg19) ; chr16:g.3729957_3729958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729957_3729958del , CM000678.2:g.3729957_3729958del	GRCh38
NC_000016.9:g.3779958_3779959del , CM000678.1:g.3779958_3779959del	GRCh37
NC_000016.8:g.3719959_3719960del	NCBI36
NG_009873.1:g.155163_155164del
NG_009873.2:g.155756_155757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-84_5173-83del MANE Select	ENSP00000262367.5:n.5173-84_5173-83del
ENST00000262367.9:c.5173-84_5173-83del	ENSP00000262367.5:n.5173-84_5173-83del
ENST00000382070.7:c.5059-84_5059-83del	ENSP00000371502.3:n.5059-84_5059-83del
NM_001079846.1:c.5059-84_5059-83del	NP_001073315.1:n.5059-84_5059-83del
NM_004380.2:c.5173-84_5173-83del	NP_004371.2:n.5173-84_5173-83del
XM_005255124.3:c.5128-84_5128-83del	XP_005255181.1:n.5128-84_5128-83del
XM_005255125.3:c.4756-84_4756-83del	XP_005255182.1:n.4756-84_4756-83del
XM_006720848.2:c.4912-84_4912-83del	XP_006720911.1:n.4912-84_4912-83del
XM_011522380.1:c.5119-84_5119-83del	XP_011520682.1:n.5119-84_5119-83del
XM_011522381.1:c.4420-84_4420-83del	XP_011520683.1:n.4420-84_4420-83del
XM_005255124.4:c.5128-84_5128-83del	XP_005255181.1:n.5128-84_5128-83del
XM_005255125.4:c.4756-84_4756-83del	XP_005255182.1:n.4756-84_4756-83del
XM_006720848.3:c.4912-84_4912-83del	XP_006720911.1:n.4912-84_4912-83del
XM_011522381.2:c.4420-84_4420-83del	XP_011520683.1:n.4420-84_4420-83del
XM_017022944.1:c.5167-84_5167-83del	XP_016878433.1:n.5167-84_5167-83del
NM_004380.3:c.5173-84_5173-83del MANE Select	NP_004371.2:n.5173-84_5173-83del