Canonical Allele Identifier: CA276972472

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1244952
• ClinVar RCV Id: RCV001649160
• dbSNP Id: rs367793587
• gnomAD v2: 16-3780076-GATGGGATCATGGACAAC-G
• gnomAD v3: 16-3730075-GATGGGATCATGGACAAC-G
• gnomAD v4: 16-3730075-GATGGGATCATGGACAAC-G
• MyVariant Identifiers: chr16:g.3780077_3780093del (hg19) ; chr16:g.3730076_3730092del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730091_3730107del , CM000678.2:g.3730091_3730107del	GRCh38
NC_000016.9:g.3780092_3780108del , CM000678.1:g.3780092_3780108del	GRCh37
NC_000016.8:g.3720093_3720109del	NCBI36
NG_009873.1:g.155029_155045del
NG_009873.2:g.155622_155638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-218_5173-202del MANE Select	ENSP00000262367.5:n.5173-218_5173-202del
ENST00000262367.9:c.5173-218_5173-202del	ENSP00000262367.5:n.5173-218_5173-202del
ENST00000382070.7:c.5059-218_5059-202del	ENSP00000371502.3:n.5059-218_5059-202del
NM_001079846.1:c.5059-218_5059-202del	NP_001073315.1:n.5059-218_5059-202del
NM_004380.2:c.5173-218_5173-202del	NP_004371.2:n.5173-218_5173-202del
XM_005255124.3:c.5128-218_5128-202del	XP_005255181.1:n.5128-218_5128-202del
XM_005255125.3:c.4756-218_4756-202del	XP_005255182.1:n.4756-218_4756-202del
XM_006720848.2:c.4912-218_4912-202del	XP_006720911.1:n.4912-218_4912-202del
XM_011522380.1:c.5119-218_5119-202del	XP_011520682.1:n.5119-218_5119-202del
XM_011522381.1:c.4420-218_4420-202del	XP_011520683.1:n.4420-218_4420-202del
XM_005255124.4:c.5128-218_5128-202del	XP_005255181.1:n.5128-218_5128-202del
XM_005255125.4:c.4756-218_4756-202del	XP_005255182.1:n.4756-218_4756-202del
XM_006720848.3:c.4912-218_4912-202del	XP_006720911.1:n.4912-218_4912-202del
XM_011522381.2:c.4420-218_4420-202del	XP_011520683.1:n.4420-218_4420-202del
XM_017022944.1:c.5167-218_5167-202del	XP_016878433.1:n.5167-218_5167-202del
NM_004380.3:c.5173-218_5173-202del MANE Select	NP_004371.2:n.5173-218_5173-202del