Canonical Allele Identifier: CA720719038

Gene: CREBBP

Linked Data

• dbSNP Id: rs1350954658
• gnomAD v3: 16-3730027-G-GGAGACCCGGACAGGGCGGGA
• gnomAD v4: 16-3730027-G-GGAGACCCGGACAGGGCGGGA
• MyVariant Identifiers: chr16:g.3780028_3780029insGAGACCCGGACAGGGCGGGA (hg19) ; chr16:g.3730027_3730028insGAGACCCGGACAGGGCGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730029_3730048dup , CM000678.2:g.3730029_3730048dup	GRCh38
NC_000016.9:g.3780030_3780049dup , CM000678.1:g.3780030_3780049dup	GRCh37
NC_000016.8:g.3720031_3720050dup	NCBI36
NG_009873.1:g.155074_155093dup
NG_009873.2:g.155667_155686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-173_5173-154dup MANE Select	ENSP00000262367.5:n.5173-173_5173-154dup
ENST00000262367.9:c.5173-173_5173-154dup	ENSP00000262367.5:n.5173-173_5173-154dup
ENST00000382070.7:c.5059-173_5059-154dup	ENSP00000371502.3:n.5059-173_5059-154dup
NM_001079846.1:c.5059-173_5059-154dup	NP_001073315.1:n.5059-173_5059-154dup
NM_004380.2:c.5173-173_5173-154dup	NP_004371.2:n.5173-173_5173-154dup
XM_005255124.3:c.5128-173_5128-154dup	XP_005255181.1:n.5128-173_5128-154dup
XM_005255125.3:c.4756-173_4756-154dup	XP_005255182.1:n.4756-173_4756-154dup
XM_006720848.2:c.4912-173_4912-154dup	XP_006720911.1:n.4912-173_4912-154dup
XM_011522380.1:c.5119-173_5119-154dup	XP_011520682.1:n.5119-173_5119-154dup
XM_011522381.1:c.4420-173_4420-154dup	XP_011520683.1:n.4420-173_4420-154dup
XM_005255124.4:c.5128-173_5128-154dup	XP_005255181.1:n.5128-173_5128-154dup
XM_005255125.4:c.4756-173_4756-154dup	XP_005255182.1:n.4756-173_4756-154dup
XM_006720848.3:c.4912-173_4912-154dup	XP_006720911.1:n.4912-173_4912-154dup
XM_011522381.2:c.4420-173_4420-154dup	XP_011520683.1:n.4420-173_4420-154dup
XM_017022944.1:c.5167-173_5167-154dup	XP_016878433.1:n.5167-173_5167-154dup
NM_004380.3:c.5173-173_5173-154dup MANE Select	NP_004371.2:n.5173-173_5173-154dup