Canonical Allele Identifier: CA2202917063

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730042_3730050delinsGCGGGAGCA , CM000678.2:g.3730042_3730050delinsGCGGGAGCA	GRCh38
NC_000016.9:g.3780043_3780051delinsGCGGGAGCA , CM000678.1:g.3780043_3780051delinsGCGGGAGCA	GRCh37
NC_000016.8:g.3720044_3720052delinsGCGGGAGCA	NCBI36
NG_009873.1:g.155071_155079delinsTGCTCCCGC
NG_009873.2:g.155664_155672delinsTGCTCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-176_5173-168delinsTGCTCCCGC MANE Select	ENSP00000262367.5:n.5173-176_5173-168delinsTGCTCCCGC
ENST00000262367.9:c.5173-176_5173-168delinsTGCTCCCGC	ENSP00000262367.5:n.5173-176_5173-168delinsTGCTCCCGC
ENST00000382070.7:c.5059-176_5059-168delinsTGCTCCCGC	ENSP00000371502.3:n.5059-176_5059-168delinsTGCTCCCGC
NM_001079846.1:c.5059-176_5059-168delinsTGCTCCCGC	NP_001073315.1:n.5059-176_5059-168delinsTGCTCCCGC
NM_004380.2:c.5173-176_5173-168delinsTGCTCCCGC	NP_004371.2:n.5173-176_5173-168delinsTGCTCCCGC
XM_005255124.3:c.5128-176_5128-168delinsTGCTCCCGC	XP_005255181.1:n.5128-176_5128-168delinsTGCTCCCGC
XM_005255125.3:c.4756-176_4756-168delinsTGCTCCCGC	XP_005255182.1:n.4756-176_4756-168delinsTGCTCCCGC
XM_006720848.2:c.4912-176_4912-168delinsTGCTCCCGC	XP_006720911.1:n.4912-176_4912-168delinsTGCTCCCGC
XM_011522380.1:c.5119-176_5119-168delinsTGCTCCCGC	XP_011520682.1:n.5119-176_5119-168delinsTGCTCCCGC
XM_011522381.1:c.4420-176_4420-168delinsTGCTCCCGC	XP_011520683.1:n.4420-176_4420-168delinsTGCTCCCGC
XM_005255124.4:c.5128-176_5128-168delinsTGCTCCCGC	XP_005255181.1:n.5128-176_5128-168delinsTGCTCCCGC
XM_005255125.4:c.4756-176_4756-168delinsTGCTCCCGC	XP_005255182.1:n.4756-176_4756-168delinsTGCTCCCGC
XM_006720848.3:c.4912-176_4912-168delinsTGCTCCCGC	XP_006720911.1:n.4912-176_4912-168delinsTGCTCCCGC
XM_011522381.2:c.4420-176_4420-168delinsTGCTCCCGC	XP_011520683.1:n.4420-176_4420-168delinsTGCTCCCGC
XM_017022944.1:c.5167-176_5167-168delinsTGCTCCCGC	XP_016878433.1:n.5167-176_5167-168delinsTGCTCCCGC
NM_004380.3:c.5173-176_5173-168delinsTGCTCCCGC MANE Select	NP_004371.2:n.5173-176_5173-168delinsTGCTCCCGC