Canonical Allele Identifier: CA720728965

Gene: CREBBP

Linked Data

• dbSNP Id: rs1299329745
• gnomAD v3: 16-3740221-G-GTAT
• gnomAD v4: 16-3740221-G-GTAT
• MyVariant Identifiers: chr16:g.3790222_3790223insTAT (hg19) ; chr16:g.3740221_3740222insTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740222_3740224dup , CM000678.2:g.3740222_3740224dup	GRCh38
NC_000016.9:g.3790223_3790225dup , CM000678.1:g.3790223_3790225dup	GRCh37
NC_000016.8:g.3730224_3730226dup	NCBI36
NG_009873.1:g.144897_144899dup
NG_009873.2:g.145490_145492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+175_4133+177dup MANE Select	ENSP00000262367.5:n.4133+175_4133+177dup
ENST00000262367.9:c.4133+175_4133+177dup	ENSP00000262367.5:n.4133+175_4133+177dup
ENST00000382070.7:c.4019+175_4019+177dup	ENSP00000371502.3:n.4019+175_4019+177dup
ENST00000570939.2:c.2768+175_2768+177dup	ENSP00000461002.2:n.2768+175_2768+177dup
ENST00000573517.6:c.439+175_439+177dup
ENST00000574740.1:n.215+175_215+177dup
ENST00000576720.1:n.3070+175_3070+177dup
NM_001079846.1:c.4019+175_4019+177dup	NP_001073315.1:n.4019+175_4019+177dup
NM_004380.2:c.4133+175_4133+177dup	NP_004371.2:n.4133+175_4133+177dup
XM_005255124.3:c.4088+175_4088+177dup	XP_005255181.1:n.4088+175_4088+177dup
XM_005255125.3:c.3716+175_3716+177dup	XP_005255182.1:n.3716+175_3716+177dup
XM_006720848.2:c.4133+175_4133+177dup	XP_006720911.1:n.4133+175_4133+177dup
XM_011522380.1:c.4079+175_4079+177dup	XP_011520682.1:n.4079+175_4079+177dup
XM_011522381.1:c.3380+175_3380+177dup	XP_011520683.1:n.3380+175_3380+177dup
XM_005255124.4:c.4088+175_4088+177dup	XP_005255181.1:n.4088+175_4088+177dup
XM_005255125.4:c.3716+175_3716+177dup	XP_005255182.1:n.3716+175_3716+177dup
XM_006720848.3:c.4133+175_4133+177dup	XP_006720911.1:n.4133+175_4133+177dup
XM_011522381.2:c.3380+175_3380+177dup	XP_011520683.1:n.3380+175_3380+177dup
XM_017022944.1:c.4127+175_4127+177dup	XP_016878433.1:n.4127+175_4127+177dup
NM_004380.3:c.4133+175_4133+177dup MANE Select	NP_004371.2:n.4133+175_4133+177dup