Canonical Allele Identifier: CA276972458

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1209359
• ClinVar RCV Id: RCV001577995
• dbSNP Id: rs540059123
• gnomAD v2: 16-3780062-G-GGGAT
• gnomAD v3: 16-3730061-G-GGGAT
• gnomAD v4: 16-3730061-G-GGGAT
• MyVariant Identifiers: chr16:g.3780062_3780063insGGAT (hg19) ; chr16:g.3730061_3730062insGGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730062_3730065dup , CM000678.2:g.3730062_3730065dup	GRCh38
NC_000016.9:g.3780063_3780066dup , CM000678.1:g.3780063_3780066dup	GRCh37
NC_000016.8:g.3720064_3720067dup	NCBI36
NG_009873.1:g.155056_155059dup
NG_009873.2:g.155649_155652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-191_5173-188dup MANE Select	ENSP00000262367.5:n.5173-191_5173-188dup
ENST00000262367.9:c.5173-191_5173-188dup	ENSP00000262367.5:n.5173-191_5173-188dup
ENST00000382070.7:c.5059-191_5059-188dup	ENSP00000371502.3:n.5059-191_5059-188dup
NM_001079846.1:c.5059-191_5059-188dup	NP_001073315.1:n.5059-191_5059-188dup
NM_004380.2:c.5173-191_5173-188dup	NP_004371.2:n.5173-191_5173-188dup
XM_005255124.3:c.5128-191_5128-188dup	XP_005255181.1:n.5128-191_5128-188dup
XM_005255125.3:c.4756-191_4756-188dup	XP_005255182.1:n.4756-191_4756-188dup
XM_006720848.2:c.4912-191_4912-188dup	XP_006720911.1:n.4912-191_4912-188dup
XM_011522380.1:c.5119-191_5119-188dup	XP_011520682.1:n.5119-191_5119-188dup
XM_011522381.1:c.4420-191_4420-188dup	XP_011520683.1:n.4420-191_4420-188dup
XM_005255124.4:c.5128-191_5128-188dup	XP_005255181.1:n.5128-191_5128-188dup
XM_005255125.4:c.4756-191_4756-188dup	XP_005255182.1:n.4756-191_4756-188dup
XM_006720848.3:c.4912-191_4912-188dup	XP_006720911.1:n.4912-191_4912-188dup
XM_011522381.2:c.4420-191_4420-188dup	XP_011520683.1:n.4420-191_4420-188dup
XM_017022944.1:c.5167-191_5167-188dup	XP_016878433.1:n.5167-191_5167-188dup
NM_004380.3:c.5173-191_5173-188dup MANE Select	NP_004371.2:n.5173-191_5173-188dup