Canonical Allele Identifier: CA7869219

Gene: CREBBP

Linked Data

• dbSNP Id: rs762247274
• ExAC: 16:3779109 CTGT / C
• gnomAD v2: 16-3779109-CTGT-C
• gnomAD v3: 16-3729108-CTGT-C
• gnomAD v4: 16-3729108-CTGT-C
• MyVariant Identifiers: chr16:g.3779110_3779112del (hg19) ; chr16:g.3729109_3729111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729114_3729116del , CM000678.2:g.3729114_3729116del	GRCh38
NC_000016.9:g.3779115_3779117del , CM000678.1:g.3779115_3779117del	GRCh37
NC_000016.8:g.3719116_3719118del	NCBI36
NG_009873.1:g.156010_156012del
NG_009873.2:g.156603_156605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5936_5938del MANE Select	ENSP00000262367.5:p.Asn1979del
ENST00000262367.9:c.5936_5938del	ENSP00000262367.5:p.Asn1979del
ENST00000382070.7:c.5822_5824del	ENSP00000371502.3:p.Asn1941del
NM_001079846.1:c.5822_5824del	NP_001073315.1:p.Asn1941del
NM_004380.2:c.5936_5938del	NP_004371.2:p.Asn1979del
XM_005255124.3:c.5891_5893del	XP_005255181.1:p.Asn1964del
XM_005255125.3:c.5519_5521del	XP_005255182.1:p.Asn1840del
XM_006720848.2:c.5675_5677del	XP_006720911.1:p.Asn1892del
XM_011522380.1:c.5882_5884del	XP_011520682.1:p.Asn1961del
XM_011522381.1:c.5183_5185del	XP_011520683.1:p.Asn1728del
XM_005255124.4:c.5891_5893del	XP_005255181.1:p.Asn1964del
XM_005255125.4:c.5519_5521del	XP_005255182.1:p.Asn1840del
XM_006720848.3:c.5675_5677del	XP_006720911.1:p.Asn1892del
XM_011522381.2:c.5183_5185del	XP_011520683.1:p.Asn1728del
XM_017022944.1:c.5930_5932del	XP_016878433.1:p.Asn1977del
NM_004380.3:c.5936_5938del MANE Select	NP_004371.2:p.Asn1979del