Canonical Allele Identifier: CA2202917079
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2051870584

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3730048_3730064dup , CM000678.2:g.3730048_3730064dup GRCh38
NC_000016.9:g.3780049_3780065dup , CM000678.1:g.3780049_3780065dup GRCh37
NC_000016.8:g.3720050_3720066dup NCBI36
NG_009873.1:g.155061_155077dup
NG_009873.2:g.155654_155670dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5173-186_5173-170dup MANE Select ENSP00000262367.5:n.5173-186_5173-170dup
ENST00000262367.9:c.5173-186_5173-170dup ENSP00000262367.5:n.5173-186_5173-170dup
ENST00000382070.7:c.5059-186_5059-170dup ENSP00000371502.3:n.5059-186_5059-170dup
NM_001079846.1:c.5059-186_5059-170dup NP_001073315.1:n.5059-186_5059-170dup
NM_004380.2:c.5173-186_5173-170dup NP_004371.2:n.5173-186_5173-170dup
XM_005255124.3:c.5128-186_5128-170dup XP_005255181.1:n.5128-186_5128-170dup
XM_005255125.3:c.4756-186_4756-170dup XP_005255182.1:n.4756-186_4756-170dup
XM_006720848.2:c.4912-186_4912-170dup XP_006720911.1:n.4912-186_4912-170dup
XM_011522380.1:c.5119-186_5119-170dup XP_011520682.1:n.5119-186_5119-170dup
XM_011522381.1:c.4420-186_4420-170dup XP_011520683.1:n.4420-186_4420-170dup
XM_005255124.4:c.5128-186_5128-170dup XP_005255181.1:n.5128-186_5128-170dup
XM_005255125.4:c.4756-186_4756-170dup XP_005255182.1:n.4756-186_4756-170dup
XM_006720848.3:c.4912-186_4912-170dup XP_006720911.1:n.4912-186_4912-170dup
XM_011522381.2:c.4420-186_4420-170dup XP_011520683.1:n.4420-186_4420-170dup
XM_017022944.1:c.5167-186_5167-170dup XP_016878433.1:n.5167-186_5167-170dup
NM_004380.3:c.5173-186_5173-170dup MANE Select NP_004371.2:n.5173-186_5173-170dup