Canonical Allele Identifier: CA2202936429

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736567_3736568delinsGT , CM000678.2:g.3736567_3736568delinsGT	GRCh38
NC_000016.9:g.3786568_3786569delinsGT , CM000678.1:g.3786568_3786569delinsGT	GRCh37
NC_000016.8:g.3726569_3726570delinsGT	NCBI36
NG_009873.1:g.148553_148554delinsAC
NG_009873.2:g.149146_149147delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+82_4560+83delinsAC MANE Select	ENSP00000262367.5:n.4560+82_4560+83delinsAC
ENST00000262367.9:c.4560+82_4560+83delinsAC	ENSP00000262367.5:n.4560+82_4560+83delinsAC
ENST00000382070.7:c.4446+82_4446+83delinsAC	ENSP00000371502.3:n.4446+82_4446+83delinsAC
ENST00000570939.2:c.3195+82_3195+83delinsAC	ENSP00000461002.2:n.3195+82_3195+83delinsAC
ENST00000571763.5:n.350+82_350+83delinsAC
ENST00000574740.1:n.463_464delinsAC
ENST00000576720.1:n.3383+82_3383+83delinsAC
NM_001079846.1:c.4446+82_4446+83delinsAC	NP_001073315.1:n.4446+82_4446+83delinsAC
NM_004380.2:c.4560+82_4560+83delinsAC	NP_004371.2:n.4560+82_4560+83delinsAC
XM_005255124.3:c.4515+82_4515+83delinsAC	XP_005255181.1:n.4515+82_4515+83delinsAC
XM_005255125.3:c.4143+82_4143+83delinsAC	XP_005255182.1:n.4143+82_4143+83delinsAC
XM_006720848.2:c.4299+82_4299+83delinsAC	XP_006720911.1:n.4299+82_4299+83delinsAC
XM_011522380.1:c.4506+82_4506+83delinsAC	XP_011520682.1:n.4506+82_4506+83delinsAC
XM_011522381.1:c.3807+82_3807+83delinsAC	XP_011520683.1:n.3807+82_3807+83delinsAC
XM_005255124.4:c.4515+82_4515+83delinsAC	XP_005255181.1:n.4515+82_4515+83delinsAC
XM_005255125.4:c.4143+82_4143+83delinsAC	XP_005255182.1:n.4143+82_4143+83delinsAC
XM_006720848.3:c.4299+82_4299+83delinsAC	XP_006720911.1:n.4299+82_4299+83delinsAC
XM_011522381.2:c.3807+82_3807+83delinsAC	XP_011520683.1:n.3807+82_3807+83delinsAC
XM_017022944.1:c.4554+82_4554+83delinsAC	XP_016878433.1:n.4554+82_4554+83delinsAC
NM_004380.3:c.4560+82_4560+83delinsAC MANE Select	NP_004371.2:n.4560+82_4560+83delinsAC