Canonical Allele Identifier: CA2202936322

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736466_3736467delinsCA , CM000678.2:g.3736466_3736467delinsCA	GRCh38
NC_000016.9:g.3786467_3786468delinsCA , CM000678.1:g.3786467_3786468delinsCA	GRCh37
NC_000016.8:g.3726468_3726469delinsCA	NCBI36
NG_009873.1:g.148654_148655delinsTG
NG_009873.2:g.149247_149248delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+183_4560+184delinsTG MANE Select	ENSP00000262367.5:n.4560+183_4560+184delinsTG
ENST00000262367.9:c.4560+183_4560+184delinsTG	ENSP00000262367.5:n.4560+183_4560+184delinsTG
ENST00000382070.7:c.4446+183_4446+184delinsTG	ENSP00000371502.3:n.4446+183_4446+184delinsTG
ENST00000570939.2:c.3195+183_3195+184delinsTG	ENSP00000461002.2:n.3195+183_3195+184delinsTG
ENST00000571763.5:n.350+183_350+184delinsTG
ENST00000576720.1:n.3383+183_3383+184delinsTG
NM_001079846.1:c.4446+183_4446+184delinsTG	NP_001073315.1:n.4446+183_4446+184delinsTG
NM_004380.2:c.4560+183_4560+184delinsTG	NP_004371.2:n.4560+183_4560+184delinsTG
XM_005255124.3:c.4515+183_4515+184delinsTG	XP_005255181.1:n.4515+183_4515+184delinsTG
XM_005255125.3:c.4143+183_4143+184delinsTG	XP_005255182.1:n.4143+183_4143+184delinsTG
XM_006720848.2:c.4299+183_4299+184delinsTG	XP_006720911.1:n.4299+183_4299+184delinsTG
XM_011522380.1:c.4506+183_4506+184delinsTG	XP_011520682.1:n.4506+183_4506+184delinsTG
XM_011522381.1:c.3807+183_3807+184delinsTG	XP_011520683.1:n.3807+183_3807+184delinsTG
XM_005255124.4:c.4515+183_4515+184delinsTG	XP_005255181.1:n.4515+183_4515+184delinsTG
XM_005255125.4:c.4143+183_4143+184delinsTG	XP_005255182.1:n.4143+183_4143+184delinsTG
XM_006720848.3:c.4299+183_4299+184delinsTG	XP_006720911.1:n.4299+183_4299+184delinsTG
XM_011522381.2:c.3807+183_3807+184delinsTG	XP_011520683.1:n.3807+183_3807+184delinsTG
XM_017022944.1:c.4554+183_4554+184delinsTG	XP_016878433.1:n.4554+183_4554+184delinsTG
NM_004380.3:c.4560+183_4560+184delinsTG MANE Select	NP_004371.2:n.4560+183_4560+184delinsTG