Canonical Allele Identifier: CA2631427137

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777896-TTCTGCAGGGCATGCATCAGATATTCTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777898_3777925del , CM000678.2:g.3777898_3777925del	GRCh38
NC_000016.9:g.3827899_3827926del , CM000678.1:g.3827899_3827926del	GRCh37
NC_000016.8:g.3767900_3767927del	NCBI36
NG_009873.1:g.107197_107224del
NG_009873.2:g.107790_107817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+87_2113+114del MANE Select	ENSP00000262367.5:n.2113+87_2113+114del
ENST00000262367.9:c.2113+87_2113+114del	ENSP00000262367.5:n.2113+87_2113+114del
ENST00000382070.7:c.1999+87_1999+114del	ENSP00000371502.3:n.1999+87_1999+114del
ENST00000570939.2:c.718+87_718+114del	ENSP00000461002.2:n.718+87_718+114del
ENST00000571826.5:c.162+87_162+114del
ENST00000572134.1:c.426+87_426+114del
NM_001079846.1:c.1999+87_1999+114del	NP_001073315.1:n.1999+87_1999+114del
NM_004380.2:c.2113+87_2113+114del	NP_004371.2:n.2113+87_2113+114del
XM_005255124.3:c.2113+87_2113+114del	XP_005255181.1:n.2113+87_2113+114del
XM_005255125.3:c.2113+87_2113+114del	XP_005255182.1:n.2113+87_2113+114del
XM_006720848.2:c.2113+87_2113+114del	XP_006720911.1:n.2113+87_2113+114del
XM_011522380.1:c.2059+87_2059+114del	XP_011520682.1:n.2059+87_2059+114del
XM_011522381.1:c.1360+87_1360+114del	XP_011520683.1:n.1360+87_1360+114del
XM_011522382.1:c.2113+87_2113+114del	XP_011520684.1:n.2113+87_2113+114del
XM_005255124.4:c.2113+87_2113+114del	XP_005255181.1:n.2113+87_2113+114del
XM_005255125.4:c.2113+87_2113+114del	XP_005255182.1:n.2113+87_2113+114del
XM_006720848.3:c.2113+87_2113+114del	XP_006720911.1:n.2113+87_2113+114del
XM_011522381.2:c.1360+87_1360+114del	XP_011520683.1:n.1360+87_1360+114del
XM_011522382.3:c.2113+87_2113+114del	XP_011520684.1:n.2113+87_2113+114del
XM_017022944.1:c.2113+87_2113+114del	XP_016878433.1:n.2113+87_2113+114del
NM_004380.3:c.2113+87_2113+114del MANE Select	NP_004371.2:n.2113+87_2113+114del