Canonical Allele Identifier: CA2499223520
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3748051_3753278del , CM000678.2:g.3748051_3753278del GRCh38
NC_000016.9:g.3798052_3803279del , CM000678.1:g.3798052_3803279del GRCh37
NC_000016.8:g.3738053_3743280del NCBI36
NG_009873.1:g.131846_137073del
NG_009873.2:g.132439_137666del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3699-1469_3836+1579del
ENST00000262367.9:c.3699-1469_3836+1579del
ENST00000382070.7:c.3585-1469_3722+1579del
ENST00000570939.2:c.2304-1439_2471+1579del
ENST00000573517.6:c.5-1469_142+1579del
NM_001079846.1:c.3585-1469_3722+1579del
NM_004380.2:c.3699-1469_3836+1579del
XM_005255124.3:c.3654-1469_3791+1579del
XM_005255125.3:c.3282-1469_3419+1579del
XM_006720848.2:c.3699-1469_3836+1579del
XM_011522380.1:c.3645-1469_3782+1579del
XM_011522381.1:c.2946-1469_3083+1579del
XM_011522382.1:c.3699-1469_3836+1579del
XM_005255124.4:c.3654-1469_3791+1579del
XM_005255125.4:c.3282-1469_3419+1579del
XM_006720848.3:c.3699-1469_3836+1579del
XM_011522381.2:c.2946-1469_3083+1579del
XM_011522382.3:c.3699-1469_3836+1579del
XM_017022944.1:c.3693-1469_3830+1579del
NM_004380.3:c.3699-1469_3836+1579del