Canonical Allele Identifier: CA2631429203

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3792093-A-ATCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792093_3792094insTCTTC , CM000678.2:g.3792093_3792094insTCTTC	GRCh38
NC_000016.9:g.3842094_3842095insTCTTC , CM000678.1:g.3842094_3842095insTCTTC	GRCh37
NC_000016.8:g.3782095_3782096insTCTTC	NCBI36
NG_009873.1:g.93027_93028insGAAGA
NG_009873.2:g.93620_93621insGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1217_1218insGAAGA MANE Select	ENSP00000262367.5:p.Ala407LysfsTer29
ENST00000262367.9:c.1217_1218insGAAGA	ENSP00000262367.5:p.Ala407LysfsTer29
ENST00000382070.7:c.1216+1292_1216+1293insGAAGA	ENSP00000371502.3:n.1216+1292_1216+1293insGAAGA
NM_001079846.1:c.1216+1292_1216+1293insGAAGA	NP_001073315.1:n.1216+1292_1216+1293insGAAGA
NM_004380.2:c.1217_1218insGAAGA	NP_004371.2:p.Ala407LysfsTer29
XM_005255124.3:c.1217_1218insGAAGA	XP_005255181.1:p.Ala407LysfsTer29
XM_005255125.3:c.1217_1218insGAAGA	XP_005255182.1:p.Ala407LysfsTer29
XM_006720848.2:c.1217_1218insGAAGA	XP_006720911.1:p.Ala407LysfsTer29
XM_011522380.1:c.1163_1164insGAAGA	XP_011520682.1:p.Ala389LysfsTer29
XM_011522381.1:c.464_465insGAAGA	XP_011520683.1:p.Ala156LysfsTer29
XM_011522382.1:c.1217_1218insGAAGA	XP_011520684.1:p.Ala407LysfsTer29
XM_005255124.4:c.1217_1218insGAAGA	XP_005255181.1:p.Ala407LysfsTer29
XM_005255125.4:c.1217_1218insGAAGA	XP_005255182.1:p.Ala407LysfsTer29
XM_006720848.3:c.1217_1218insGAAGA	XP_006720911.1:p.Ala407LysfsTer29
XM_011522381.2:c.464_465insGAAGA	XP_011520683.1:p.Ala156LysfsTer29
XM_011522382.3:c.1217_1218insGAAGA	XP_011520684.1:p.Ala407LysfsTer29
XM_017022944.1:c.1217_1218insGAAGA	XP_016878433.1:p.Ala407LysfsTer29
NM_004380.3:c.1217_1218insGAAGA MANE Select	NP_004371.2:p.Ala407LysfsTer29