Canonical Allele Identifier: CA2573151996

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773778_3773779insAGCC , CM000678.2:g.3773778_3773779insAGCC	GRCh38
NC_000016.9:g.3823779_3823780insAGCC , CM000678.1:g.3823779_3823780insAGCC	GRCh37
NC_000016.8:g.3763780_3763781insAGCC	NCBI36
NG_009873.1:g.111343_111344insGCTG
NG_009873.2:g.111936_111937insGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2436_2437insGCTG MANE Select	ENSP00000262367.5:p.Pro813AlafsTer20
ENST00000262367.9:c.2436_2437insGCTG	ENSP00000262367.5:p.Pro813AlafsTer20
ENST00000382070.7:c.2322_2323insGCTG	ENSP00000371502.3:p.Pro775AlafsTer20
ENST00000570939.2:c.1041_1042insGCTG	ENSP00000461002.2:p.Pro348AlafsTer20
ENST00000571826.5:c.485_486insGCTG
ENST00000572134.1:c.704_705insGCTG
ENST00000575237.2:n.331_332insGCTG
NM_001079846.1:c.2322_2323insGCTG	NP_001073315.1:p.Pro775AlafsTer20
NM_004380.2:c.2436_2437insGCTG	NP_004371.2:p.Pro813AlafsTer20
XM_005255124.3:c.2391_2392insGCTG	XP_005255181.1:p.Pro798AlafsTer20
XM_005255125.3:c.2436_2437insGCTG	XP_005255182.1:p.Pro813AlafsTer19
XM_006720848.2:c.2436_2437insGCTG	XP_006720911.1:p.Pro813AlafsTer20
XM_011522380.1:c.2382_2383insGCTG	XP_011520682.1:p.Pro795AlafsTer20
XM_011522381.1:c.1683_1684insGCTG	XP_011520683.1:p.Pro562AlafsTer20
XM_011522382.1:c.2436_2437insGCTG	XP_011520684.1:p.Pro813AlafsTer20
XM_005255124.4:c.2391_2392insGCTG	XP_005255181.1:p.Pro798AlafsTer20
XM_005255125.4:c.2436_2437insGCTG	XP_005255182.1:p.Pro813AlafsTer19
XM_006720848.3:c.2436_2437insGCTG	XP_006720911.1:p.Pro813AlafsTer20
XM_011522381.2:c.1683_1684insGCTG	XP_011520683.1:p.Pro562AlafsTer20
XM_011522382.3:c.2436_2437insGCTG	XP_011520684.1:p.Pro813AlafsTer20
XM_017022944.1:c.2436_2437insGCTG	XP_016878433.1:p.Pro813AlafsTer18
NM_004380.3:c.2436_2437insGCTG MANE Select	NP_004371.2:p.Pro813AlafsTer20