Canonical Allele Identifier: CA2631401613

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736719-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736719_3736720insG , CM000678.2:g.3736719_3736720insG	GRCh38
NC_000016.9:g.3786720_3786721insG , CM000678.1:g.3786720_3786721insG	GRCh37
NC_000016.8:g.3726721_3726722insG	NCBI36
NG_009873.1:g.148401_148402insC
NG_009873.2:g.148994_148995insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4490_4491insC MANE Select	ENSP00000262367.5:p.Lys1497AsnfsTer22
ENST00000262367.9:c.4490_4491insC	ENSP00000262367.5:p.Lys1497AsnfsTer22
ENST00000382070.7:c.4376_4377insC	ENSP00000371502.3:p.Lys1459AsnfsTer22
ENST00000570939.2:c.3125_3126insC	ENSP00000461002.2:p.Lys1042AsnfsTer22
ENST00000571763.5:n.280_281insC
ENST00000574740.1:n.311_312insC
ENST00000576720.1:n.3313_3314insC
NM_001079846.1:c.4376_4377insC	NP_001073315.1:p.Lys1459AsnfsTer22
NM_004380.2:c.4490_4491insC	NP_004371.2:p.Lys1497AsnfsTer22
XM_005255124.3:c.4445_4446insC	XP_005255181.1:p.Lys1482AsnfsTer22
XM_005255125.3:c.4073_4074insC	XP_005255182.1:p.Lys1358AsnfsTer22
XM_006720848.2:c.4229_4230insC	XP_006720911.1:p.Lys1410AsnfsTer22
XM_011522380.1:c.4436_4437insC	XP_011520682.1:p.Lys1479AsnfsTer22
XM_011522381.1:c.3737_3738insC	XP_011520683.1:p.Lys1246AsnfsTer22
XM_005255124.4:c.4445_4446insC	XP_005255181.1:p.Lys1482AsnfsTer22
XM_005255125.4:c.4073_4074insC	XP_005255182.1:p.Lys1358AsnfsTer22
XM_006720848.3:c.4229_4230insC	XP_006720911.1:p.Lys1410AsnfsTer22
XM_011522381.2:c.3737_3738insC	XP_011520683.1:p.Lys1246AsnfsTer22
XM_017022944.1:c.4484_4485insC	XP_016878433.1:p.Lys1495AsnfsTer22
NM_004380.3:c.4490_4491insC MANE Select	NP_004371.2:p.Lys1497AsnfsTer22