Canonical Allele Identifier: CA2695222741

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728924_3728927del , CM000678.2:g.3728924_3728927del	GRCh38
NC_000016.9:g.3778925_3778928del , CM000678.1:g.3778925_3778928del	GRCh37
NC_000016.8:g.3718926_3718929del	NCBI36
NG_009873.1:g.156196_156199del
NG_009873.2:g.156789_156792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6122_6125del MANE Select	ENSP00000262367.5:p.Ser2041CysfsTer?
ENST00000262367.9:c.6122_6125del	ENSP00000262367.5:p.Ser2041CysfsTer?
ENST00000382070.7:c.6008_6011del	ENSP00000371502.3:p.Ser2003CysfsTer?
NM_001079846.1:c.6008_6011del	NP_001073315.1:p.Ser2003CysfsTer?
NM_004380.2:c.6122_6125del	NP_004371.2:p.Ser2041CysfsTer?
XM_005255124.3:c.6077_6080del	XP_005255181.1:p.Ser2026CysfsTer?
XM_005255125.3:c.5705_5708del	XP_005255182.1:p.Ser1902CysfsTer?
XM_006720848.2:c.5861_5864del	XP_006720911.1:p.Ser1954CysfsTer?
XM_011522380.1:c.6068_6071del	XP_011520682.1:p.Ser2023CysfsTer?
XM_011522381.1:c.5369_5372del	XP_011520683.1:p.Ser1790CysfsTer?
XM_005255124.4:c.6077_6080del	XP_005255181.1:p.Ser2026CysfsTer?
XM_005255125.4:c.5705_5708del	XP_005255182.1:p.Ser1902CysfsTer?
XM_006720848.3:c.5861_5864del	XP_006720911.1:p.Ser1954CysfsTer?
XM_011522381.2:c.5369_5372del	XP_011520683.1:p.Ser1790CysfsTer?
XM_017022944.1:c.6116_6119del	XP_016878433.1:p.Ser2039CysfsTer?
NM_004380.3:c.6122_6125del MANE Select	NP_004371.2:p.Ser2041CysfsTer?