Canonical Allele Identifier: CA2631427603

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3778184-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778189dup , CM000678.2:g.3778189dup	GRCh38
NC_000016.9:g.3828190dup , CM000678.1:g.3828190dup	GRCh37
NC_000016.8:g.3768191dup	NCBI36
NG_009873.1:g.106936dup
NG_009873.2:g.107529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1942-3dup MANE Select	ENSP00000262367.5:n.1942-3dup
ENST00000262367.9:c.1942-3dup	ENSP00000262367.5:n.1942-3dup
ENST00000382070.7:c.1828-3dup	ENSP00000371502.3:n.1828-3dup
ENST00000570939.2:c.547-3dup	ENSP00000461002.2:n.547-3dup
ENST00000572134.1:c.255-3dup
ENST00000634839.1:n.104-3dup
NM_001079846.1:c.1828-3dup	NP_001073315.1:n.1828-3dup
NM_004380.2:c.1942-3dup	NP_004371.2:n.1942-3dup
XM_005255124.3:c.1942-3dup	XP_005255181.1:n.1942-3dup
XM_005255125.3:c.1942-3dup	XP_005255182.1:n.1942-3dup
XM_006720848.2:c.1942-3dup	XP_006720911.1:n.1942-3dup
XM_011522380.1:c.1888-3dup	XP_011520682.1:n.1888-3dup
XM_011522381.1:c.1189-3dup	XP_011520683.1:n.1189-3dup
XM_011522382.1:c.1942-3dup	XP_011520684.1:n.1942-3dup
XM_005255124.4:c.1942-3dup	XP_005255181.1:n.1942-3dup
XM_005255125.4:c.1942-3dup	XP_005255182.1:n.1942-3dup
XM_006720848.3:c.1942-3dup	XP_006720911.1:n.1942-3dup
XM_011522381.2:c.1189-3dup	XP_011520683.1:n.1189-3dup
XM_011522382.3:c.1942-3dup	XP_011520684.1:n.1942-3dup
XM_017022944.1:c.1942-3dup	XP_016878433.1:n.1942-3dup
NM_004380.3:c.1942-3dup MANE Select	NP_004371.2:n.1942-3dup