Canonical Allele Identifier: CA7869219
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs762247274

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729114_3729116del , CM000678.2:g.3729114_3729116del GRCh38
NC_000016.9:g.3779115_3779117del , CM000678.1:g.3779115_3779117del GRCh37
NC_000016.8:g.3719116_3719118del NCBI36
NG_009873.1:g.156010_156012del
NG_009873.2:g.156603_156605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5936_5938del MANE Select ENSP00000262367.5:p.Asn1979del
ENST00000262367.9:c.5936_5938del ENSP00000262367.5:p.Asn1979del
ENST00000382070.7:c.5822_5824del ENSP00000371502.3:p.Asn1941del
NM_001079846.1:c.5822_5824del NP_001073315.1:p.Asn1941del
NM_004380.2:c.5936_5938del NP_004371.2:p.Asn1979del
XM_005255124.3:c.5891_5893del XP_005255181.1:p.Asn1964del
XM_005255125.3:c.5519_5521del XP_005255182.1:p.Asn1840del
XM_006720848.2:c.5675_5677del XP_006720911.1:p.Asn1892del
XM_011522380.1:c.5882_5884del XP_011520682.1:p.Asn1961del
XM_011522381.1:c.5183_5185del XP_011520683.1:p.Asn1728del
XM_005255124.4:c.5891_5893del XP_005255181.1:p.Asn1964del
XM_005255125.4:c.5519_5521del XP_005255182.1:p.Asn1840del
XM_006720848.3:c.5675_5677del XP_006720911.1:p.Asn1892del
XM_011522381.2:c.5183_5185del XP_011520683.1:p.Asn1728del
XM_017022944.1:c.5930_5932del XP_016878433.1:p.Asn1977del
NM_004380.3:c.5936_5938del MANE Select NP_004371.2:p.Asn1979del