Canonical Allele Identifier: CA620714725

Gene: CREBBP

Linked Data

• gnomAD v2: 16-3860783-G-GAAAAAAA
• MyVariant Identifiers: chr16:g.3860783_3860784insAAAAAAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810785_3810786insAAAAAAA , CM000678.2:g.3810785_3810786insAAAAAAA	GRCh38
NC_000016.9:g.3860786_3860787insAAAAAAA , CM000678.1:g.3860786_3860787insAAAAAAA	GRCh37
NC_000016.8:g.3800787_3800788insAAAAAAA	NCBI36
NG_009873.1:g.74338_74339insTTTTTTT
NG_009873.2:g.74931_74932insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-4_799-3insTTTTTTT MANE Select	ENSP00000262367.5:n.799-4_799-3insTTTTTTT
ENST00000635899.1:n.41-4_41-3insTTTTTTT
ENST00000262367.9:c.799-4_799-3insTTTTTTT	ENSP00000262367.5:n.799-4_799-3insTTTTTTT
ENST00000382070.7:c.799-4_799-3insTTTTTTT	ENSP00000371502.3:n.799-4_799-3insTTTTTTT
NM_001079846.1:c.799-4_799-3insTTTTTTT	NP_001073315.1:n.799-4_799-3insTTTTTTT
NM_004380.2:c.799-4_799-3insTTTTTTT	NP_004371.2:n.799-4_799-3insTTTTTTT
XM_005255124.3:c.799-4_799-3insTTTTTTT	XP_005255181.1:n.799-4_799-3insTTTTTTT
XM_005255125.3:c.799-4_799-3insTTTTTTT	XP_005255182.1:n.799-4_799-3insTTTTTTT
XM_006720848.2:c.799-4_799-3insTTTTTTT	XP_006720911.1:n.799-4_799-3insTTTTTTT
XM_011522380.1:c.745-4_745-3insTTTTTTT	XP_011520682.1:n.745-4_745-3insTTTTTTT
XM_011522381.1:c.46-4_46-3insTTTTTTT	XP_011520683.1:n.46-4_46-3insTTTTTTT
XM_011522382.1:c.799-4_799-3insTTTTTTT	XP_011520684.1:n.799-4_799-3insTTTTTTT
XM_005255124.4:c.799-4_799-3insTTTTTTT	XP_005255181.1:n.799-4_799-3insTTTTTTT
XM_005255125.4:c.799-4_799-3insTTTTTTT	XP_005255182.1:n.799-4_799-3insTTTTTTT
XM_006720848.3:c.799-4_799-3insTTTTTTT	XP_006720911.1:n.799-4_799-3insTTTTTTT
XM_011522381.2:c.46-4_46-3insTTTTTTT	XP_011520683.1:n.46-4_46-3insTTTTTTT
XM_011522382.3:c.799-4_799-3insTTTTTTT	XP_011520684.1:n.799-4_799-3insTTTTTTT
XM_017022944.1:c.799-4_799-3insTTTTTTT	XP_016878433.1:n.799-4_799-3insTTTTTTT
NM_004380.3:c.799-4_799-3insTTTTTTT MANE Select	NP_004371.2:n.799-4_799-3insTTTTTTT