Canonical Allele Identifier: CA2631424080

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3757803-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757805_3757806del , CM000678.2:g.3757805_3757806del	GRCh38
NC_000016.9:g.3807806_3807807del , CM000678.1:g.3807806_3807807del	GRCh37
NC_000016.8:g.3747807_3747808del	NCBI36
NG_009873.1:g.127316_127317del
NG_009873.2:g.127909_127910del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3609+4_3609+5del MANE Select	ENSP00000262367.5:n.3609+4_3609+5del
ENST00000262367.9:c.3609+4_3609+5del	ENSP00000262367.5:n.3609+4_3609+5del
ENST00000382070.7:c.3495+4_3495+5del	ENSP00000371502.3:n.3495+4_3495+5del
ENST00000570939.2:c.2214+4_2214+5del	ENSP00000461002.2:n.2214+4_2214+5del
NM_001079846.1:c.3495+4_3495+5del	NP_001073315.1:n.3495+4_3495+5del
NM_004380.2:c.3609+4_3609+5del	NP_004371.2:n.3609+4_3609+5del
XM_005255124.3:c.3564+4_3564+5del	XP_005255181.1:n.3564+4_3564+5del
XM_005255125.3:c.3192+4_3192+5del	XP_005255182.1:n.3192+4_3192+5del
XM_006720848.2:c.3609+4_3609+5del	XP_006720911.1:n.3609+4_3609+5del
XM_011522380.1:c.3555+4_3555+5del	XP_011520682.1:n.3555+4_3555+5del
XM_011522381.1:c.2856+4_2856+5del	XP_011520683.1:n.2856+4_2856+5del
XM_011522382.1:c.3609+4_3609+5del	XP_011520684.1:n.3609+4_3609+5del
XM_005255124.4:c.3564+4_3564+5del	XP_005255181.1:n.3564+4_3564+5del
XM_005255125.4:c.3192+4_3192+5del	XP_005255182.1:n.3192+4_3192+5del
XM_006720848.3:c.3609+4_3609+5del	XP_006720911.1:n.3609+4_3609+5del
XM_011522381.2:c.2856+4_2856+5del	XP_011520683.1:n.2856+4_2856+5del
XM_011522382.3:c.3609+4_3609+5del	XP_011520684.1:n.3609+4_3609+5del
XM_017022944.1:c.3603+4_3603+5del	XP_016878433.1:n.3603+4_3603+5del
NM_004380.3:c.3609+4_3609+5del MANE Select	NP_004371.2:n.3609+4_3609+5del