Canonical Allele Identifier: CA2739290734
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736645_3736670del , CM000678.2:g.3736645_3736670del GRCh38
NC_000016.9:g.3786646_3786671del , CM000678.1:g.3786646_3786671del GRCh37
NC_000016.8:g.3726647_3726672del NCBI36
NG_009873.1:g.148454_148479del
NG_009873.2:g.149047_149072del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4543_4560+8del
ENST00000262367.9:c.4543_4560+8del
ENST00000382070.7:c.4429_4446+8del
ENST00000570939.2:c.3178_3195+8del
ENST00000571763.5:n.333_350+8del
ENST00000574740.1:n.364_389del
ENST00000576720.1:n.3366_3383+8del
NM_001079846.1:c.4429_4446+8del
NM_004380.2:c.4543_4560+8del
XM_005255124.3:c.4498_4515+8del
XM_005255125.3:c.4126_4143+8del
XM_006720848.2:c.4282_4299+8del
XM_011522380.1:c.4489_4506+8del
XM_011522381.1:c.3790_3807+8del
XM_005255124.4:c.4498_4515+8del
XM_005255125.4:c.4126_4143+8del
XM_006720848.3:c.4282_4299+8del
XM_011522381.2:c.3790_3807+8del
XM_017022944.1:c.4537_4554+8del
NM_004380.3:c.4543_4560+8del