Canonical Allele Identifier: CA2202928482

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728107_3728108delinsTG , CM000678.2:g.3728107_3728108delinsTG	GRCh38
NC_000016.9:g.3778108_3778109delinsTG , CM000678.1:g.3778108_3778109delinsTG	GRCh37
NC_000016.8:g.3718109_3718110delinsTG	NCBI36
NG_009873.1:g.157013_157014delinsCA
NG_009873.2:g.157606_157607delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6939_6940delinsCA MANE Select	ENSP00000262367.5:p.Pro2313=
ENST00000262367.9:c.6939_6940delinsCA	ENSP00000262367.5:p.Pro2313=
ENST00000382070.7:c.6825_6826delinsCA	ENSP00000371502.3:p.Pro2275=
NM_001079846.1:c.6825_6826delinsCA	NP_001073315.1:p.Pro2275=
NM_004380.2:c.6939_6940delinsCA	NP_004371.2:p.Pro2313=
XM_005255124.3:c.6894_6895delinsCA	XP_005255181.1:p.Pro2298=
XM_005255125.3:c.6522_6523delinsCA	XP_005255182.1:p.Pro2174=
XM_006720848.2:c.6678_6679delinsCA	XP_006720911.1:p.Pro2226=
XM_011522380.1:c.6885_6886delinsCA	XP_011520682.1:p.Pro2295=
XM_011522381.1:c.6186_6187delinsCA	XP_011520683.1:p.Pro2062=
XM_005255124.4:c.6894_6895delinsCA	XP_005255181.1:p.Pro2298=
XM_005255125.4:c.6522_6523delinsCA	XP_005255182.1:p.Pro2174=
XM_006720848.3:c.6678_6679delinsCA	XP_006720911.1:p.Pro2226=
XM_011522381.2:c.6186_6187delinsCA	XP_011520683.1:p.Pro2062=
XM_017022944.1:c.6933_6934delinsCA	XP_016878433.1:p.Pro2311=
NM_004380.3:c.6939_6940delinsCA MANE Select	NP_004371.2:p.Pro2313=