Canonical Allele Identifier: CA2202958247

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777667_3777673delinsCAAAACA , CM000678.2:g.3777667_3777673delinsCAAAACA	GRCh38
NC_000016.9:g.3827668_3827674delinsCAAAACA , CM000678.1:g.3827668_3827674delinsCAAAACA	GRCh37
NC_000016.8:g.3767669_3767675delinsCAAAACA	NCBI36
NG_009873.1:g.107448_107454delinsTGTTTTG
NG_009873.2:g.108041_108047delinsTGTTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2114-16_2114-10delinsTGTTTTG MANE Select	ENSP00000262367.5:n.2114-16_2114-10delinsTGTTTTG
ENST00000262367.9:c.2114-16_2114-10delinsTGTTTTG	ENSP00000262367.5:n.2114-16_2114-10delinsTGTTTTG
ENST00000382070.7:c.2000-16_2000-10delinsTGTTTTG	ENSP00000371502.3:n.2000-16_2000-10delinsTGTTTTG
ENST00000570939.2:c.719-16_719-10delinsTGTTTTG	ENSP00000461002.2:n.719-16_719-10delinsTGTTTTG
ENST00000571826.5:c.163-16_163-10delinsTGTTTTG
ENST00000572134.1:c.426+338_426+344delinsTGTTTTG
NM_001079846.1:c.2000-16_2000-10delinsTGTTTTG	NP_001073315.1:n.2000-16_2000-10delinsTGTTTTG
NM_004380.2:c.2114-16_2114-10delinsTGTTTTG	NP_004371.2:n.2114-16_2114-10delinsTGTTTTG
XM_005255124.3:c.2113+338_2113+344delinsTGTTTTG	XP_005255181.1:n.2113+338_2113+344delinsTGTTTTG
XM_005255125.3:c.2114-16_2114-10delinsTGTTTTG	XP_005255182.1:n.2114-16_2114-10delinsTGTTTTG
XM_006720848.2:c.2114-16_2114-10delinsTGTTTTG	XP_006720911.1:n.2114-16_2114-10delinsTGTTTTG
XM_011522380.1:c.2060-16_2060-10delinsTGTTTTG	XP_011520682.1:n.2060-16_2060-10delinsTGTTTTG
XM_011522381.1:c.1361-16_1361-10delinsTGTTTTG	XP_011520683.1:n.1361-16_1361-10delinsTGTTTTG
XM_011522382.1:c.2114-16_2114-10delinsTGTTTTG	XP_011520684.1:n.2114-16_2114-10delinsTGTTTTG
XM_005255124.4:c.2113+338_2113+344delinsTGTTTTG	XP_005255181.1:n.2113+338_2113+344delinsTGTTTTG
XM_005255125.4:c.2114-16_2114-10delinsTGTTTTG	XP_005255182.1:n.2114-16_2114-10delinsTGTTTTG
XM_006720848.3:c.2114-16_2114-10delinsTGTTTTG	XP_006720911.1:n.2114-16_2114-10delinsTGTTTTG
XM_011522381.2:c.1361-16_1361-10delinsTGTTTTG	XP_011520683.1:n.1361-16_1361-10delinsTGTTTTG
XM_011522382.3:c.2114-16_2114-10delinsTGTTTTG	XP_011520684.1:n.2114-16_2114-10delinsTGTTTTG
XM_017022944.1:c.2114-16_2114-10delinsTGTTTTG	XP_016878433.1:n.2114-16_2114-10delinsTGTTTTG
NM_004380.3:c.2114-16_2114-10delinsTGTTTTG MANE Select	NP_004371.2:n.2114-16_2114-10delinsTGTTTTG