Canonical Allele Identifier: CA2202916228

Gene: CREBBP

Linked Data

• dbSNP Id: rs762247274

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729114_3729116dup , CM000678.2:g.3729114_3729116dup	GRCh38
NC_000016.9:g.3779115_3779117dup , CM000678.1:g.3779115_3779117dup	GRCh37
NC_000016.8:g.3719116_3719118dup	NCBI36
NG_009873.1:g.156010_156012dup
NG_009873.2:g.156603_156605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5936_5938dup MANE Select	ENSP00000262367.5:p.Asn1979_Ser1980insAsn
ENST00000262367.9:c.5936_5938dup	ENSP00000262367.5:p.Asn1979_Ser1980insAsn
ENST00000382070.7:c.5822_5824dup	ENSP00000371502.3:p.Asn1941_Ser1942insAsn
NM_001079846.1:c.5822_5824dup	NP_001073315.1:p.Asn1941_Ser1942insAsn
NM_004380.2:c.5936_5938dup	NP_004371.2:p.Asn1979_Ser1980insAsn
XM_005255124.3:c.5891_5893dup	XP_005255181.1:p.Asn1964_Ser1965insAsn
XM_005255125.3:c.5519_5521dup	XP_005255182.1:p.Asn1840_Ser1841insAsn
XM_006720848.2:c.5675_5677dup	XP_006720911.1:p.Asn1892_Ser1893insAsn
XM_011522380.1:c.5882_5884dup	XP_011520682.1:p.Asn1961_Ser1962insAsn
XM_011522381.1:c.5183_5185dup	XP_011520683.1:p.Asn1728_Ser1729insAsn
XM_005255124.4:c.5891_5893dup	XP_005255181.1:p.Asn1964_Ser1965insAsn
XM_005255125.4:c.5519_5521dup	XP_005255182.1:p.Asn1840_Ser1841insAsn
XM_006720848.3:c.5675_5677dup	XP_006720911.1:p.Asn1892_Ser1893insAsn
XM_011522381.2:c.5183_5185dup	XP_011520683.1:p.Asn1728_Ser1729insAsn
XM_017022944.1:c.5930_5932dup	XP_016878433.1:p.Asn1977_Ser1978insAsn
NM_004380.3:c.5936_5938dup MANE Select	NP_004371.2:p.Asn1979_Ser1980insAsn