Canonical Allele Identifier: CA2575893908

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736856-GAAATCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736857_3736864del , CM000678.2:g.3736857_3736864del	GRCh38
NC_000016.9:g.3786858_3786865del , CM000678.1:g.3786858_3786865del	GRCh37
NC_000016.8:g.3726859_3726866del	NCBI36
NG_009873.1:g.148257_148264del
NG_009873.2:g.148850_148857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-49_4395-42del MANE Select	ENSP00000262367.5:n.4395-49_4395-42del
ENST00000262367.9:c.4395-49_4395-42del	ENSP00000262367.5:n.4395-49_4395-42del
ENST00000382070.7:c.4281-49_4281-42del	ENSP00000371502.3:n.4281-49_4281-42del
ENST00000570939.2:c.3030-49_3030-42del	ENSP00000461002.2:n.3030-49_3030-42del
ENST00000571763.5:n.136_143del
ENST00000574740.1:n.216-49_216-42del
ENST00000576720.1:n.3218-49_3218-42del
NM_001079846.1:c.4281-49_4281-42del	NP_001073315.1:n.4281-49_4281-42del
NM_004380.2:c.4395-49_4395-42del	NP_004371.2:n.4395-49_4395-42del
XM_005255124.3:c.4350-49_4350-42del	XP_005255181.1:n.4350-49_4350-42del
XM_005255125.3:c.3978-49_3978-42del	XP_005255182.1:n.3978-49_3978-42del
XM_006720848.2:c.4134-49_4134-42del	XP_006720911.1:n.4134-49_4134-42del
XM_011522380.1:c.4341-49_4341-42del	XP_011520682.1:n.4341-49_4341-42del
XM_011522381.1:c.3642-49_3642-42del	XP_011520683.1:n.3642-49_3642-42del
XM_005255124.4:c.4350-49_4350-42del	XP_005255181.1:n.4350-49_4350-42del
XM_005255125.4:c.3978-49_3978-42del	XP_005255182.1:n.3978-49_3978-42del
XM_006720848.3:c.4134-49_4134-42del	XP_006720911.1:n.4134-49_4134-42del
XM_011522381.2:c.3642-49_3642-42del	XP_011520683.1:n.3642-49_3642-42del
XM_017022944.1:c.4389-49_4389-42del	XP_016878433.1:n.4389-49_4389-42del
NM_004380.3:c.4395-49_4395-42del MANE Select	NP_004371.2:n.4395-49_4395-42del