Canonical Allele Identifier: CA2202958778

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778086_3778092delinsCCAAGAT , CM000678.2:g.3778086_3778092delinsCCAAGAT	GRCh38
NC_000016.9:g.3828087_3828093delinsCCAAGAT , CM000678.1:g.3828087_3828093delinsCCAAGAT	GRCh37
NC_000016.8:g.3768088_3768094delinsCCAAGAT	NCBI36
NG_009873.1:g.107029_107035delinsATCTTGG
NG_009873.2:g.107622_107628delinsATCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2032_2038delinsATCTTGG MANE Select	ENSP00000262367.5:p.Ile678=
ENST00000262367.9:c.2032_2038delinsATCTTGG	ENSP00000262367.5:p.Ile678=
ENST00000382070.7:c.1918_1924delinsATCTTGG	ENSP00000371502.3:p.Ile640=
ENST00000570939.2:c.637_643delinsATCTTGG	ENSP00000461002.2:p.Ile213=
ENST00000571826.5:c.81_87delinsATCTTGG
ENST00000572134.1:c.345_351delinsATCTTGG
ENST00000634839.1:n.194_200delinsATCTTGG
NM_001079846.1:c.1918_1924delinsATCTTGG	NP_001073315.1:p.Ile640=
NM_004380.2:c.2032_2038delinsATCTTGG	NP_004371.2:p.Ile678=
XM_005255124.3:c.2032_2038delinsATCTTGG	XP_005255181.1:p.Ile678=
XM_005255125.3:c.2032_2038delinsATCTTGG	XP_005255182.1:p.Ile678=
XM_006720848.2:c.2032_2038delinsATCTTGG	XP_006720911.1:p.Ile678=
XM_011522380.1:c.1978_1984delinsATCTTGG	XP_011520682.1:p.Ile660=
XM_011522381.1:c.1279_1285delinsATCTTGG	XP_011520683.1:p.Ile427=
XM_011522382.1:c.2032_2038delinsATCTTGG	XP_011520684.1:p.Ile678=
XM_005255124.4:c.2032_2038delinsATCTTGG	XP_005255181.1:p.Ile678=
XM_005255125.4:c.2032_2038delinsATCTTGG	XP_005255182.1:p.Ile678=
XM_006720848.3:c.2032_2038delinsATCTTGG	XP_006720911.1:p.Ile678=
XM_011522381.2:c.1279_1285delinsATCTTGG	XP_011520683.1:p.Ile427=
XM_011522382.3:c.2032_2038delinsATCTTGG	XP_011520684.1:p.Ile678=
XM_017022944.1:c.2032_2038delinsATCTTGG	XP_016878433.1:p.Ile678=
NM_004380.3:c.2032_2038delinsATCTTGG MANE Select	NP_004371.2:p.Ile678=