Canonical Allele Identifier: CA2202953735

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792107_3792110delinsAAAC , CM000678.2:g.3792107_3792110delinsAAAC	GRCh38
NC_000016.9:g.3842108_3842111delinsAAAC , CM000678.1:g.3842108_3842111delinsAAAC	GRCh37
NC_000016.8:g.3782109_3782112delinsAAAC	NCBI36
NG_009873.1:g.93011_93014delinsGTTT
NG_009873.2:g.93604_93607delinsGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1217-16_1217-13delinsGTTT MANE Select	ENSP00000262367.5:n.1217-16_1217-13delinsGTTT
ENST00000262367.9:c.1217-16_1217-13delinsGTTT	ENSP00000262367.5:n.1217-16_1217-13delinsGTTT
ENST00000382070.7:c.1216+1276_1216+1279delinsGTTT	ENSP00000371502.3:n.1216+1276_1216+1279delinsGTTT
NM_001079846.1:c.1216+1276_1216+1279delinsGTTT	NP_001073315.1:n.1216+1276_1216+1279delinsGTTT
NM_004380.2:c.1217-16_1217-13delinsGTTT	NP_004371.2:n.1217-16_1217-13delinsGTTT
XM_005255124.3:c.1217-16_1217-13delinsGTTT	XP_005255181.1:n.1217-16_1217-13delinsGTTT
XM_005255125.3:c.1217-16_1217-13delinsGTTT	XP_005255182.1:n.1217-16_1217-13delinsGTTT
XM_006720848.2:c.1217-16_1217-13delinsGTTT	XP_006720911.1:n.1217-16_1217-13delinsGTTT
XM_011522380.1:c.1163-16_1163-13delinsGTTT	XP_011520682.1:n.1163-16_1163-13delinsGTTT
XM_011522381.1:c.464-16_464-13delinsGTTT	XP_011520683.1:n.464-16_464-13delinsGTTT
XM_011522382.1:c.1217-16_1217-13delinsGTTT	XP_011520684.1:n.1217-16_1217-13delinsGTTT
XM_005255124.4:c.1217-16_1217-13delinsGTTT	XP_005255181.1:n.1217-16_1217-13delinsGTTT
XM_005255125.4:c.1217-16_1217-13delinsGTTT	XP_005255182.1:n.1217-16_1217-13delinsGTTT
XM_006720848.3:c.1217-16_1217-13delinsGTTT	XP_006720911.1:n.1217-16_1217-13delinsGTTT
XM_011522381.2:c.464-16_464-13delinsGTTT	XP_011520683.1:n.464-16_464-13delinsGTTT
XM_011522382.3:c.1217-16_1217-13delinsGTTT	XP_011520684.1:n.1217-16_1217-13delinsGTTT
XM_017022944.1:c.1217-16_1217-13delinsGTTT	XP_016878433.1:n.1217-16_1217-13delinsGTTT
NM_004380.3:c.1217-16_1217-13delinsGTTT MANE Select	NP_004371.2:n.1217-16_1217-13delinsGTTT