Canonical Allele Identifier: CA2631401476

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736520-TTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736524_3736527del , CM000678.2:g.3736524_3736527del	GRCh38
NC_000016.9:g.3786525_3786528del , CM000678.1:g.3786525_3786528del	GRCh37
NC_000016.8:g.3726526_3726529del	NCBI36
NG_009873.1:g.148597_148600del
NG_009873.2:g.149190_149193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+126_4560+129del MANE Select	ENSP00000262367.5:n.4560+126_4560+129del
ENST00000262367.9:c.4560+126_4560+129del	ENSP00000262367.5:n.4560+126_4560+129del
ENST00000382070.7:c.4446+126_4446+129del	ENSP00000371502.3:n.4446+126_4446+129del
ENST00000570939.2:c.3195+126_3195+129del	ENSP00000461002.2:n.3195+126_3195+129del
ENST00000571763.5:n.350+126_350+129del
ENST00000574740.1:n.507_510del
ENST00000576720.1:n.3383+126_3383+129del
NM_001079846.1:c.4446+126_4446+129del	NP_001073315.1:n.4446+126_4446+129del
NM_004380.2:c.4560+126_4560+129del	NP_004371.2:n.4560+126_4560+129del
XM_005255124.3:c.4515+126_4515+129del	XP_005255181.1:n.4515+126_4515+129del
XM_005255125.3:c.4143+126_4143+129del	XP_005255182.1:n.4143+126_4143+129del
XM_006720848.2:c.4299+126_4299+129del	XP_006720911.1:n.4299+126_4299+129del
XM_011522380.1:c.4506+126_4506+129del	XP_011520682.1:n.4506+126_4506+129del
XM_011522381.1:c.3807+126_3807+129del	XP_011520683.1:n.3807+126_3807+129del
XM_005255124.4:c.4515+126_4515+129del	XP_005255181.1:n.4515+126_4515+129del
XM_005255125.4:c.4143+126_4143+129del	XP_005255182.1:n.4143+126_4143+129del
XM_006720848.3:c.4299+126_4299+129del	XP_006720911.1:n.4299+126_4299+129del
XM_011522381.2:c.3807+126_3807+129del	XP_011520683.1:n.3807+126_3807+129del
XM_017022944.1:c.4554+126_4554+129del	XP_016878433.1:n.4554+126_4554+129del
NM_004380.3:c.4560+126_4560+129del MANE Select	NP_004371.2:n.4560+126_4560+129del