Canonical Allele Identifier: CA973906781

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052055943
• gnomAD v3: 16-3736254-CCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCT-C
• gnomAD v4: 16-3736254-CCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736265_3736302del , CM000678.2:g.3736265_3736302del	GRCh38
NC_000016.9:g.3786266_3786303del , CM000678.1:g.3786266_3786303del	GRCh37
NC_000016.8:g.3726267_3726304del	NCBI36
NG_009873.1:g.148829_148866del
NG_009873.2:g.149422_149459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-89_4561-52del MANE Select	ENSP00000262367.5:n.4561-89_4561-52del
ENST00000262367.9:c.4561-89_4561-52del	ENSP00000262367.5:n.4561-89_4561-52del
ENST00000382070.7:c.4447-89_4447-52del	ENSP00000371502.3:n.4447-89_4447-52del
ENST00000570939.2:c.3196-89_3196-52del	ENSP00000461002.2:n.3196-89_3196-52del
ENST00000571763.5:n.351-89_351-52del
ENST00000576720.1:n.3384-89_3384-52del
NM_001079846.1:c.4447-89_4447-52del	NP_001073315.1:n.4447-89_4447-52del
NM_004380.2:c.4561-89_4561-52del	NP_004371.2:n.4561-89_4561-52del
XM_005255124.3:c.4516-89_4516-52del	XP_005255181.1:n.4516-89_4516-52del
XM_005255125.3:c.4144-89_4144-52del	XP_005255182.1:n.4144-89_4144-52del
XM_006720848.2:c.4300-89_4300-52del	XP_006720911.1:n.4300-89_4300-52del
XM_011522380.1:c.4507-89_4507-52del	XP_011520682.1:n.4507-89_4507-52del
XM_011522381.1:c.3808-89_3808-52del	XP_011520683.1:n.3808-89_3808-52del
XM_005255124.4:c.4516-89_4516-52del	XP_005255181.1:n.4516-89_4516-52del
XM_005255125.4:c.4144-89_4144-52del	XP_005255182.1:n.4144-89_4144-52del
XM_006720848.3:c.4300-89_4300-52del	XP_006720911.1:n.4300-89_4300-52del
XM_011522381.2:c.3808-89_3808-52del	XP_011520683.1:n.3808-89_3808-52del
XM_017022944.1:c.4555-89_4555-52del	XP_016878433.1:n.4555-89_4555-52del
NM_004380.3:c.4561-89_4561-52del MANE Select	NP_004371.2:n.4561-89_4561-52del