Canonical Allele Identifier: CA2202916129

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728942_3728943delinsCA , CM000678.2:g.3728942_3728943delinsCA	GRCh38
NC_000016.9:g.3778943_3778944delinsCA , CM000678.1:g.3778943_3778944delinsCA	GRCh37
NC_000016.8:g.3718944_3718945delinsCA	NCBI36
NG_009873.1:g.156178_156179delinsTG
NG_009873.2:g.156771_156772delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6104_6105delinsTG MANE Select	ENSP00000262367.5:p.Leu2035=
ENST00000262367.9:c.6104_6105delinsTG	ENSP00000262367.5:p.Leu2035=
ENST00000382070.7:c.5990_5991delinsTG	ENSP00000371502.3:p.Leu1997=
NM_001079846.1:c.5990_5991delinsTG	NP_001073315.1:p.Leu1997=
NM_004380.2:c.6104_6105delinsTG	NP_004371.2:p.Leu2035=
XM_005255124.3:c.6059_6060delinsTG	XP_005255181.1:p.Leu2020=
XM_005255125.3:c.5687_5688delinsTG	XP_005255182.1:p.Leu1896=
XM_006720848.2:c.5843_5844delinsTG	XP_006720911.1:p.Leu1948=
XM_011522380.1:c.6050_6051delinsTG	XP_011520682.1:p.Leu2017=
XM_011522381.1:c.5351_5352delinsTG	XP_011520683.1:p.Leu1784=
XM_005255124.4:c.6059_6060delinsTG	XP_005255181.1:p.Leu2020=
XM_005255125.4:c.5687_5688delinsTG	XP_005255182.1:p.Leu1896=
XM_006720848.3:c.5843_5844delinsTG	XP_006720911.1:p.Leu1948=
XM_011522381.2:c.5351_5352delinsTG	XP_011520683.1:p.Leu1784=
XM_017022944.1:c.6098_6099delinsTG	XP_016878433.1:p.Leu2033=
NM_004380.3:c.6104_6105delinsTG MANE Select	NP_004371.2:p.Leu2035=