Canonical Allele Identifier: CA2631427221

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777978-CTAAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777979_3777984del , CM000678.2:g.3777979_3777984del	GRCh38
NC_000016.9:g.3827980_3827985del , CM000678.1:g.3827980_3827985del	GRCh37
NC_000016.8:g.3767981_3767986del	NCBI36
NG_009873.1:g.107137_107142del
NG_009873.2:g.107730_107735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113+27_2113+32del MANE Select	ENSP00000262367.5:n.2113+27_2113+32del
ENST00000262367.9:c.2113+27_2113+32del	ENSP00000262367.5:n.2113+27_2113+32del
ENST00000382070.7:c.1999+27_1999+32del	ENSP00000371502.3:n.1999+27_1999+32del
ENST00000570939.2:c.718+27_718+32del	ENSP00000461002.2:n.718+27_718+32del
ENST00000571826.5:c.162+27_162+32del
ENST00000572134.1:c.426+27_426+32del
ENST00000634839.1:n.302_307del
NM_001079846.1:c.1999+27_1999+32del	NP_001073315.1:n.1999+27_1999+32del
NM_004380.2:c.2113+27_2113+32del	NP_004371.2:n.2113+27_2113+32del
XM_005255124.3:c.2113+27_2113+32del	XP_005255181.1:n.2113+27_2113+32del
XM_005255125.3:c.2113+27_2113+32del	XP_005255182.1:n.2113+27_2113+32del
XM_006720848.2:c.2113+27_2113+32del	XP_006720911.1:n.2113+27_2113+32del
XM_011522380.1:c.2059+27_2059+32del	XP_011520682.1:n.2059+27_2059+32del
XM_011522381.1:c.1360+27_1360+32del	XP_011520683.1:n.1360+27_1360+32del
XM_011522382.1:c.2113+27_2113+32del	XP_011520684.1:n.2113+27_2113+32del
XM_005255124.4:c.2113+27_2113+32del	XP_005255181.1:n.2113+27_2113+32del
XM_005255125.4:c.2113+27_2113+32del	XP_005255182.1:n.2113+27_2113+32del
XM_006720848.3:c.2113+27_2113+32del	XP_006720911.1:n.2113+27_2113+32del
XM_011522381.2:c.1360+27_1360+32del	XP_011520683.1:n.1360+27_1360+32del
XM_011522382.3:c.2113+27_2113+32del	XP_011520684.1:n.2113+27_2113+32del
XM_017022944.1:c.2113+27_2113+32del	XP_016878433.1:n.2113+27_2113+32del
NM_004380.3:c.2113+27_2113+32del MANE Select	NP_004371.2:n.2113+27_2113+32del