Canonical Allele Identifier: CA2202958817

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778097_3778098delinsTG , CM000678.2:g.3778097_3778098delinsTG	GRCh38
NC_000016.9:g.3828098_3828099delinsTG , CM000678.1:g.3828098_3828099delinsTG	GRCh37
NC_000016.8:g.3768099_3768100delinsTG	NCBI36
NG_009873.1:g.107023_107024delinsCA
NG_009873.2:g.107616_107617delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2026_2027delinsCA MANE Select	ENSP00000262367.5:p.Gln676=
ENST00000262367.9:c.2026_2027delinsCA	ENSP00000262367.5:p.Gln676=
ENST00000382070.7:c.1912_1913delinsCA	ENSP00000371502.3:p.Gln638=
ENST00000570939.2:c.631_632delinsCA	ENSP00000461002.2:p.Gln211=
ENST00000571826.5:c.75_76delinsCA
ENST00000572134.1:c.339_340delinsCA
ENST00000634839.1:n.188_189delinsCA
NM_001079846.1:c.1912_1913delinsCA	NP_001073315.1:p.Gln638=
NM_004380.2:c.2026_2027delinsCA	NP_004371.2:p.Gln676=
XM_005255124.3:c.2026_2027delinsCA	XP_005255181.1:p.Gln676=
XM_005255125.3:c.2026_2027delinsCA	XP_005255182.1:p.Gln676=
XM_006720848.2:c.2026_2027delinsCA	XP_006720911.1:p.Gln676=
XM_011522380.1:c.1972_1973delinsCA	XP_011520682.1:p.Gln658=
XM_011522381.1:c.1273_1274delinsCA	XP_011520683.1:p.Gln425=
XM_011522382.1:c.2026_2027delinsCA	XP_011520684.1:p.Gln676=
XM_005255124.4:c.2026_2027delinsCA	XP_005255181.1:p.Gln676=
XM_005255125.4:c.2026_2027delinsCA	XP_005255182.1:p.Gln676=
XM_006720848.3:c.2026_2027delinsCA	XP_006720911.1:p.Gln676=
XM_011522381.2:c.1273_1274delinsCA	XP_011520683.1:p.Gln425=
XM_011522382.3:c.2026_2027delinsCA	XP_011520684.1:p.Gln676=
XM_017022944.1:c.2026_2027delinsCA	XP_016878433.1:p.Gln676=
NM_004380.3:c.2026_2027delinsCA MANE Select	NP_004371.2:p.Gln676=