Canonical Allele Identifier: CA658798525

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728852_3728862del , CM000678.2:g.3728852_3728862del	GRCh38
NC_000016.9:g.3778853_3778863del , CM000678.1:g.3778853_3778863del	GRCh37
NC_000016.8:g.3718854_3718864del	NCBI36
NG_009873.1:g.156259_156269del
NG_009873.2:g.156852_156862del

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6185_6195del MANE Select	NP_004371.2:p.Ile2062SerfsTer?
ENST00000262367.10:c.6185_6195del MANE Select	ENSP00000262367.5:p.Ile2062SerfsTer?
NM_001079846.1:c.6071_6081del	NP_001073315.1:p.Ile2024SerfsTer?
NM_004380.2:c.6185_6195del	NP_004371.2:p.Ile2062SerfsTer?
ENST00000262367.9:c.6185_6195del	ENSP00000262367.5:p.Ile2062SerfsTer?
ENST00000382070.7:c.6071_6081del	ENSP00000371502.3:p.Ile2024SerfsTer?
XM_005255124.3:c.6140_6150del	XP_005255181.1:p.Ile2047SerfsTer?
XM_005255124.4:c.6140_6150del	XP_005255181.1:p.Ile2047SerfsTer?
XM_005255125.3:c.5768_5778del	XP_005255182.1:p.Ile1923SerfsTer?
XM_005255125.4:c.5768_5778del	XP_005255182.1:p.Ile1923SerfsTer?
XM_006720848.2:c.5924_5934del	XP_006720911.1:p.Ile1975SerfsTer?
XM_006720848.3:c.5924_5934del	XP_006720911.1:p.Ile1975SerfsTer?
XM_011522380.1:c.6131_6141del	XP_011520682.1:p.Ile2044SerfsTer?
XM_011522381.1:c.5432_5442del	XP_011520683.1:p.Ile1811SerfsTer?
XM_011522381.2:c.5432_5442del	XP_011520683.1:p.Ile1811SerfsTer?
XM_017022944.1:c.6179_6189del	XP_016878433.1:p.Ile2060SerfsTer?