Canonical Allele Identifier: CA2202916281

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051841254
• gnomAD v4: 16-3729198-TGGGCCGGGGGTGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729206_3729220del , CM000678.2:g.3729206_3729220del	GRCh38
NC_000016.9:g.3779207_3779221del , CM000678.1:g.3779207_3779221del	GRCh37
NC_000016.8:g.3719208_3719222del	NCBI36
NG_009873.1:g.155908_155922del
NG_009873.2:g.156501_156515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5834_5848del MANE Select	ENSP00000262367.5:p.Pro1945_Ala1949del
ENST00000262367.9:c.5834_5848del	ENSP00000262367.5:p.Pro1945_Ala1949del
ENST00000382070.7:c.5720_5734del	ENSP00000371502.3:p.Pro1907_Ala1911del
NM_001079846.1:c.5720_5734del	NP_001073315.1:p.Pro1907_Ala1911del
NM_004380.2:c.5834_5848del	NP_004371.2:p.Pro1945_Ala1949del
XM_005255124.3:c.5789_5803del	XP_005255181.1:p.Pro1930_Ala1934del
XM_005255125.3:c.5417_5431del	XP_005255182.1:p.Pro1806_Ala1810del
XM_006720848.2:c.5573_5587del	XP_006720911.1:p.Pro1858_Ala1862del
XM_011522380.1:c.5780_5794del	XP_011520682.1:p.Pro1927_Ala1931del
XM_011522381.1:c.5081_5095del	XP_011520683.1:p.Pro1694_Ala1698del
XM_005255124.4:c.5789_5803del	XP_005255181.1:p.Pro1930_Ala1934del
XM_005255125.4:c.5417_5431del	XP_005255182.1:p.Pro1806_Ala1810del
XM_006720848.3:c.5573_5587del	XP_006720911.1:p.Pro1858_Ala1862del
XM_011522381.2:c.5081_5095del	XP_011520683.1:p.Pro1694_Ala1698del
XM_017022944.1:c.5828_5842del	XP_016878433.1:p.Pro1943_Ala1947del
NM_004380.3:c.5834_5848del MANE Select	NP_004371.2:p.Pro1945_Ala1949del