Canonical Allele Identifier: CA2202936202
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736364_3736367delinsACCC , CM000678.2:g.3736364_3736367delinsACCC GRCh38
NC_000016.9:g.3786365_3786368delinsACCC , CM000678.1:g.3786365_3786368delinsACCC GRCh37
NC_000016.8:g.3726366_3726369delinsACCC NCBI36
NG_009873.1:g.148754_148757delinsGGGT
NG_009873.2:g.149347_149350delinsGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4561-164_4561-161delinsGGGT MANE Select ENSP00000262367.5:n.4561-164_4561-161delinsGGGT
ENST00000262367.9:c.4561-164_4561-161delinsGGGT ENSP00000262367.5:n.4561-164_4561-161delinsGGGT
ENST00000382070.7:c.4447-164_4447-161delinsGGGT ENSP00000371502.3:n.4447-164_4447-161delinsGGGT
ENST00000570939.2:c.3196-164_3196-161delinsGGGT ENSP00000461002.2:n.3196-164_3196-161delinsGGGT
ENST00000571763.5:n.351-164_351-161delinsGGGT
ENST00000576720.1:n.3384-164_3384-161delinsGGGT
NM_001079846.1:c.4447-164_4447-161delinsGGGT NP_001073315.1:n.4447-164_4447-161delinsGGGT
NM_004380.2:c.4561-164_4561-161delinsGGGT NP_004371.2:n.4561-164_4561-161delinsGGGT
XM_005255124.3:c.4516-164_4516-161delinsGGGT XP_005255181.1:n.4516-164_4516-161delinsGGGT
XM_005255125.3:c.4144-164_4144-161delinsGGGT XP_005255182.1:n.4144-164_4144-161delinsGGGT
XM_006720848.2:c.4300-164_4300-161delinsGGGT XP_006720911.1:n.4300-164_4300-161delinsGGGT
XM_011522380.1:c.4507-164_4507-161delinsGGGT XP_011520682.1:n.4507-164_4507-161delinsGGGT
XM_011522381.1:c.3808-164_3808-161delinsGGGT XP_011520683.1:n.3808-164_3808-161delinsGGGT
XM_005255124.4:c.4516-164_4516-161delinsGGGT XP_005255181.1:n.4516-164_4516-161delinsGGGT
XM_005255125.4:c.4144-164_4144-161delinsGGGT XP_005255182.1:n.4144-164_4144-161delinsGGGT
XM_006720848.3:c.4300-164_4300-161delinsGGGT XP_006720911.1:n.4300-164_4300-161delinsGGGT
XM_011522381.2:c.3808-164_3808-161delinsGGGT XP_011520683.1:n.3808-164_3808-161delinsGGGT
XM_017022944.1:c.4555-164_4555-161delinsGGGT XP_016878433.1:n.4555-164_4555-161delinsGGGT
NM_004380.3:c.4561-164_4561-161delinsGGGT MANE Select NP_004371.2:n.4561-164_4561-161delinsGGGT