Canonical Allele Identifier: CA2202937020

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3737076_3737080delinsGGCCT , CM000678.2:g.3737076_3737080delinsGGCCT	GRCh38
NC_000016.9:g.3787077_3787081delinsGGCCT , CM000678.1:g.3787077_3787081delinsGGCCT	GRCh37
NC_000016.8:g.3727078_3727082delinsGGCCT	NCBI36
NG_009873.1:g.148041_148045delinsAGGCC
NG_009873.2:g.148634_148638delinsAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-265_4395-261delinsAGGCC MANE Select	ENSP00000262367.5:n.4395-265_4395-261delinsAGGCC
ENST00000262367.9:c.4395-265_4395-261delinsAGGCC	ENSP00000262367.5:n.4395-265_4395-261delinsAGGCC
ENST00000382070.7:c.4281-265_4281-261delinsAGGCC	ENSP00000371502.3:n.4281-265_4281-261delinsAGGCC
ENST00000570939.2:c.3030-265_3030-261delinsAGGCC	ENSP00000461002.2:n.3030-265_3030-261delinsAGGCC
ENST00000574740.1:n.216-265_216-261delinsAGGCC
ENST00000576720.1:n.3218-265_3218-261delinsAGGCC
NM_001079846.1:c.4281-265_4281-261delinsAGGCC	NP_001073315.1:n.4281-265_4281-261delinsAGGCC
NM_004380.2:c.4395-265_4395-261delinsAGGCC	NP_004371.2:n.4395-265_4395-261delinsAGGCC
XM_005255124.3:c.4350-265_4350-261delinsAGGCC	XP_005255181.1:n.4350-265_4350-261delinsAGGCC
XM_005255125.3:c.3978-265_3978-261delinsAGGCC	XP_005255182.1:n.3978-265_3978-261delinsAGGCC
XM_006720848.2:c.4134-265_4134-261delinsAGGCC	XP_006720911.1:n.4134-265_4134-261delinsAGGCC
XM_011522380.1:c.4341-265_4341-261delinsAGGCC	XP_011520682.1:n.4341-265_4341-261delinsAGGCC
XM_011522381.1:c.3642-265_3642-261delinsAGGCC	XP_011520683.1:n.3642-265_3642-261delinsAGGCC
XM_005255124.4:c.4350-265_4350-261delinsAGGCC	XP_005255181.1:n.4350-265_4350-261delinsAGGCC
XM_005255125.4:c.3978-265_3978-261delinsAGGCC	XP_005255182.1:n.3978-265_3978-261delinsAGGCC
XM_006720848.3:c.4134-265_4134-261delinsAGGCC	XP_006720911.1:n.4134-265_4134-261delinsAGGCC
XM_011522381.2:c.3642-265_3642-261delinsAGGCC	XP_011520683.1:n.3642-265_3642-261delinsAGGCC
XM_017022944.1:c.4389-265_4389-261delinsAGGCC	XP_016878433.1:n.4389-265_4389-261delinsAGGCC
NM_004380.3:c.4395-265_4395-261delinsAGGCC MANE Select	NP_004371.2:n.4395-265_4395-261delinsAGGCC