Canonical Allele Identifier: CA2202937172
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3737175_3737176delinsCA , CM000678.2:g.3737175_3737176delinsCA GRCh38
NC_000016.9:g.3787176_3787177delinsCA , CM000678.1:g.3787176_3787177delinsCA GRCh37
NC_000016.8:g.3727177_3727178delinsCA NCBI36
NG_009873.1:g.147945_147946delinsTG
NG_009873.2:g.148538_148539delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4395-361_4395-360delinsTG MANE Select ENSP00000262367.5:n.4395-361_4395-360delinsTG
ENST00000262367.9:c.4395-361_4395-360delinsTG ENSP00000262367.5:n.4395-361_4395-360delinsTG
ENST00000382070.7:c.4281-361_4281-360delinsTG ENSP00000371502.3:n.4281-361_4281-360delinsTG
ENST00000570939.2:c.3030-361_3030-360delinsTG ENSP00000461002.2:n.3030-361_3030-360delinsTG
ENST00000574740.1:n.216-361_216-360delinsTG
ENST00000576720.1:n.3218-361_3218-360delinsTG
NM_001079846.1:c.4281-361_4281-360delinsTG NP_001073315.1:n.4281-361_4281-360delinsTG
NM_004380.2:c.4395-361_4395-360delinsTG NP_004371.2:n.4395-361_4395-360delinsTG
XM_005255124.3:c.4350-361_4350-360delinsTG XP_005255181.1:n.4350-361_4350-360delinsTG
XM_005255125.3:c.3978-361_3978-360delinsTG XP_005255182.1:n.3978-361_3978-360delinsTG
XM_006720848.2:c.4134-361_4134-360delinsTG XP_006720911.1:n.4134-361_4134-360delinsTG
XM_011522380.1:c.4341-361_4341-360delinsTG XP_011520682.1:n.4341-361_4341-360delinsTG
XM_011522381.1:c.3642-361_3642-360delinsTG XP_011520683.1:n.3642-361_3642-360delinsTG
XM_005255124.4:c.4350-361_4350-360delinsTG XP_005255181.1:n.4350-361_4350-360delinsTG
XM_005255125.4:c.3978-361_3978-360delinsTG XP_005255182.1:n.3978-361_3978-360delinsTG
XM_006720848.3:c.4134-361_4134-360delinsTG XP_006720911.1:n.4134-361_4134-360delinsTG
XM_011522381.2:c.3642-361_3642-360delinsTG XP_011520683.1:n.3642-361_3642-360delinsTG
XM_017022944.1:c.4389-361_4389-360delinsTG XP_016878433.1:n.4389-361_4389-360delinsTG
NM_004380.3:c.4395-361_4395-360delinsTG MANE Select NP_004371.2:n.4395-361_4395-360delinsTG