Canonical Allele Identifier: CA2573152060

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729066_3729086delinsATGC , CM000678.2:g.3729066_3729086delinsATGC	GRCh38
NC_000016.9:g.3779067_3779087delinsATGC , CM000678.1:g.3779067_3779087delinsATGC	GRCh37
NC_000016.8:g.3719068_3719088delinsATGC	NCBI36
NG_009873.1:g.156035_156055delinsGCAT
NG_009873.2:g.156628_156648delinsGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5961_5981delinsGCAT MANE Select	ENSP00000262367.5:p.Met1988HisfsTer?
ENST00000262367.9:c.5961_5981delinsGCAT	ENSP00000262367.5:p.Met1988HisfsTer?
ENST00000382070.7:c.5847_5867delinsGCAT	ENSP00000371502.3:p.Met1950HisfsTer?
NM_001079846.1:c.5847_5867delinsGCAT	NP_001073315.1:p.Met1950HisfsTer?
NM_004380.2:c.5961_5981delinsGCAT	NP_004371.2:p.Met1988HisfsTer?
XM_005255124.3:c.5916_5936delinsGCAT	XP_005255181.1:p.Met1973HisfsTer?
XM_005255125.3:c.5544_5564delinsGCAT	XP_005255182.1:p.Met1849HisfsTer?
XM_006720848.2:c.5700_5720delinsGCAT	XP_006720911.1:p.Met1901HisfsTer?
XM_011522380.1:c.5907_5927delinsGCAT	XP_011520682.1:p.Met1970HisfsTer?
XM_011522381.1:c.5208_5228delinsGCAT	XP_011520683.1:p.Met1737HisfsTer?
XM_005255124.4:c.5916_5936delinsGCAT	XP_005255181.1:p.Met1973HisfsTer?
XM_005255125.4:c.5544_5564delinsGCAT	XP_005255182.1:p.Met1849HisfsTer?
XM_006720848.3:c.5700_5720delinsGCAT	XP_006720911.1:p.Met1901HisfsTer?
XM_011522381.2:c.5208_5228delinsGCAT	XP_011520683.1:p.Met1737HisfsTer?
XM_017022944.1:c.5955_5975delinsGCAT	XP_016878433.1:p.Met1986HisfsTer?
NM_004380.3:c.5961_5981delinsGCAT MANE Select	NP_004371.2:p.Met1988HisfsTer?