Canonical Allele Identifier: CA2695222668
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3757806_3757812del , CM000678.2:g.3757806_3757812del GRCh38
NC_000016.9:g.3807807_3807813del , CM000678.1:g.3807807_3807813del GRCh37
NC_000016.8:g.3747808_3747814del NCBI36
NG_009873.1:g.127311_127317del
NG_009873.2:g.127904_127910del

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3608_3609+5del
ENST00000262367.9:c.3608_3609+5del
ENST00000382070.7:c.3494_3495+5del
ENST00000570939.2:c.2213_2214+5del
NM_001079846.1:c.3494_3495+5del
NM_004380.2:c.3608_3609+5del
XM_005255124.3:c.3563_3564+5del
XM_005255125.3:c.3191_3192+5del
XM_006720848.2:c.3608_3609+5del
XM_011522380.1:c.3554_3555+5del
XM_011522381.1:c.2855_2856+5del
XM_011522382.1:c.3608_3609+5del
XM_005255124.4:c.3563_3564+5del
XM_005255125.4:c.3191_3192+5del
XM_006720848.3:c.3608_3609+5del
XM_011522381.2:c.2855_2856+5del
XM_011522382.3:c.3608_3609+5del
XM_017022944.1:c.3602_3603+5del
NM_004380.3:c.3608_3609+5del