Canonical Allele Identifier: CA2202954793

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3793274_3793275delinsGA , CM000678.2:g.3793274_3793275delinsGA	GRCh38
NC_000016.9:g.3843275_3843276delinsGA , CM000678.1:g.3843275_3843276delinsGA	GRCh37
NC_000016.8:g.3783276_3783277delinsGA	NCBI36
NG_009873.1:g.91846_91847delinsTC
NG_009873.2:g.92439_92440delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1216+111_1216+112delinsTC MANE Select	ENSP00000262367.5:n.1216+111_1216+112delinsTC
ENST00000262367.9:c.1216+111_1216+112delinsTC	ENSP00000262367.5:n.1216+111_1216+112delinsTC
ENST00000382070.7:c.1216+111_1216+112delinsTC	ENSP00000371502.3:n.1216+111_1216+112delinsTC
NM_001079846.1:c.1216+111_1216+112delinsTC	NP_001073315.1:n.1216+111_1216+112delinsTC
NM_004380.2:c.1216+111_1216+112delinsTC	NP_004371.2:n.1216+111_1216+112delinsTC
XM_005255124.3:c.1216+111_1216+112delinsTC	XP_005255181.1:n.1216+111_1216+112delinsTC
XM_005255125.3:c.1216+111_1216+112delinsTC	XP_005255182.1:n.1216+111_1216+112delinsTC
XM_006720848.2:c.1216+111_1216+112delinsTC	XP_006720911.1:n.1216+111_1216+112delinsTC
XM_011522380.1:c.1162+111_1162+112delinsTC	XP_011520682.1:n.1162+111_1162+112delinsTC
XM_011522381.1:c.463+111_463+112delinsTC	XP_011520683.1:n.463+111_463+112delinsTC
XM_011522382.1:c.1216+111_1216+112delinsTC	XP_011520684.1:n.1216+111_1216+112delinsTC
XM_005255124.4:c.1216+111_1216+112delinsTC	XP_005255181.1:n.1216+111_1216+112delinsTC
XM_005255125.4:c.1216+111_1216+112delinsTC	XP_005255182.1:n.1216+111_1216+112delinsTC
XM_006720848.3:c.1216+111_1216+112delinsTC	XP_006720911.1:n.1216+111_1216+112delinsTC
XM_011522381.2:c.463+111_463+112delinsTC	XP_011520683.1:n.463+111_463+112delinsTC
XM_011522382.3:c.1216+111_1216+112delinsTC	XP_011520684.1:n.1216+111_1216+112delinsTC
XM_017022944.1:c.1216+111_1216+112delinsTC	XP_016878433.1:n.1216+111_1216+112delinsTC
NM_004380.3:c.1216+111_1216+112delinsTC MANE Select	NP_004371.2:n.1216+111_1216+112delinsTC