Canonical Allele Identifier: CA720710338

Gene: CREBBP

Linked Data

• dbSNP Id: rs1381262158
• gnomAD v3: 16-3777846-TCCCAACACAG-T
• gnomAD v4: 16-3777846-TCCCAACACAG-T
• MyVariant Identifiers: chr16:g.3827848_3827857del (hg19) ; chr16:g.3777847_3777856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777849_3777858del , CM000678.2:g.3777849_3777858del	GRCh38
NC_000016.9:g.3827850_3827859del , CM000678.1:g.3827850_3827859del	GRCh37
NC_000016.8:g.3767851_3767860del	NCBI36
NG_009873.1:g.107265_107274del
NG_009873.2:g.107858_107867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+155_2113+164del MANE Select	ENSP00000262367.5:n.2113+155_2113+164del
ENST00000262367.9:c.2113+155_2113+164del	ENSP00000262367.5:n.2113+155_2113+164del
ENST00000382070.7:c.1999+155_1999+164del	ENSP00000371502.3:n.1999+155_1999+164del
ENST00000570939.2:c.718+155_718+164del	ENSP00000461002.2:n.718+155_718+164del
ENST00000571826.5:c.162+155_162+164del
ENST00000572134.1:c.426+155_426+164del
NM_001079846.1:c.1999+155_1999+164del	NP_001073315.1:n.1999+155_1999+164del
NM_004380.2:c.2113+155_2113+164del	NP_004371.2:n.2113+155_2113+164del
XM_005255124.3:c.2113+155_2113+164del	XP_005255181.1:n.2113+155_2113+164del
XM_005255125.3:c.2113+155_2113+164del	XP_005255182.1:n.2113+155_2113+164del
XM_006720848.2:c.2113+155_2113+164del	XP_006720911.1:n.2113+155_2113+164del
XM_011522380.1:c.2059+155_2059+164del	XP_011520682.1:n.2059+155_2059+164del
XM_011522381.1:c.1360+155_1360+164del	XP_011520683.1:n.1360+155_1360+164del
XM_011522382.1:c.2113+155_2113+164del	XP_011520684.1:n.2113+155_2113+164del
XM_005255124.4:c.2113+155_2113+164del	XP_005255181.1:n.2113+155_2113+164del
XM_005255125.4:c.2113+155_2113+164del	XP_005255182.1:n.2113+155_2113+164del
XM_006720848.3:c.2113+155_2113+164del	XP_006720911.1:n.2113+155_2113+164del
XM_011522381.2:c.1360+155_1360+164del	XP_011520683.1:n.1360+155_1360+164del
XM_011522382.3:c.2113+155_2113+164del	XP_011520684.1:n.2113+155_2113+164del
XM_017022944.1:c.2113+155_2113+164del	XP_016878433.1:n.2113+155_2113+164del
NM_004380.3:c.2113+155_2113+164del MANE Select	NP_004371.2:n.2113+155_2113+164del