Canonical Allele Identifier: CA620714822

Gene: CREBBP

Linked Data

• dbSNP Id: rs1491583800
• gnomAD v2: 16-3900276-G-GA
• gnomAD v3: 16-3850275-G-GA
• gnomAD v4: 16-3850275-G-GA
• MyVariant Identifiers: chr16:g.3900276_3900277insA (hg19) ; chr16:g.3850275_3850276insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850278dup , CM000678.2:g.3850278dup	GRCh38
NC_000016.9:g.3900279dup , CM000678.1:g.3900279dup	GRCh37
NC_000016.8:g.3840280dup	NCBI36
NG_009873.1:g.34845dup
NG_009873.2:g.35438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.798+21dup MANE Select	ENSP00000262367.5:n.798+21dup
ENST00000636895.1:n.25+21dup
ENST00000262367.9:c.798+21dup	ENSP00000262367.5:n.798+21dup
ENST00000382070.7:c.798+21dup	ENSP00000371502.3:n.798+21dup
NM_001079846.1:c.798+21dup	NP_001073315.1:n.798+21dup
NM_004380.2:c.798+21dup	NP_004371.2:n.798+21dup
XM_005255124.3:c.798+21dup	XP_005255181.1:n.798+21dup
XM_005255125.3:c.798+21dup	XP_005255182.1:n.798+21dup
XM_006720848.2:c.798+21dup	XP_006720911.1:n.798+21dup
XM_011522380.1:c.744+21dup	XP_011520682.1:n.744+21dup
XM_011522382.1:c.798+21dup	XP_011520684.1:n.798+21dup
XM_005255124.4:c.798+21dup	XP_005255181.1:n.798+21dup
XM_005255125.4:c.798+21dup	XP_005255182.1:n.798+21dup
XM_006720848.3:c.798+21dup	XP_006720911.1:n.798+21dup
XM_011522382.3:c.798+21dup	XP_011520684.1:n.798+21dup
XM_017022944.1:c.798+21dup	XP_016878433.1:n.798+21dup
NM_004380.3:c.798+21dup MANE Select	NP_004371.2:n.798+21dup