Canonical Allele Identifier: CA2631401239

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736311-TCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736316_3736354del , CM000678.2:g.3736316_3736354del	GRCh38
NC_000016.9:g.3786317_3786355del , CM000678.1:g.3786317_3786355del	GRCh37
NC_000016.8:g.3726318_3726356del	NCBI36
NG_009873.1:g.148771_148809del
NG_009873.2:g.149364_149402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-147_4561-109del MANE Select	ENSP00000262367.5:n.4561-147_4561-109del
ENST00000262367.9:c.4561-147_4561-109del	ENSP00000262367.5:n.4561-147_4561-109del
ENST00000382070.7:c.4447-147_4447-109del	ENSP00000371502.3:n.4447-147_4447-109del
ENST00000570939.2:c.3196-147_3196-109del	ENSP00000461002.2:n.3196-147_3196-109del
ENST00000571763.5:n.351-147_351-109del
ENST00000576720.1:n.3384-147_3384-109del
NM_001079846.1:c.4447-147_4447-109del	NP_001073315.1:n.4447-147_4447-109del
NM_004380.2:c.4561-147_4561-109del	NP_004371.2:n.4561-147_4561-109del
XM_005255124.3:c.4516-147_4516-109del	XP_005255181.1:n.4516-147_4516-109del
XM_005255125.3:c.4144-147_4144-109del	XP_005255182.1:n.4144-147_4144-109del
XM_006720848.2:c.4300-147_4300-109del	XP_006720911.1:n.4300-147_4300-109del
XM_011522380.1:c.4507-147_4507-109del	XP_011520682.1:n.4507-147_4507-109del
XM_011522381.1:c.3808-147_3808-109del	XP_011520683.1:n.3808-147_3808-109del
XM_005255124.4:c.4516-147_4516-109del	XP_005255181.1:n.4516-147_4516-109del
XM_005255125.4:c.4144-147_4144-109del	XP_005255182.1:n.4144-147_4144-109del
XM_006720848.3:c.4300-147_4300-109del	XP_006720911.1:n.4300-147_4300-109del
XM_011522381.2:c.3808-147_3808-109del	XP_011520683.1:n.3808-147_3808-109del
XM_017022944.1:c.4555-147_4555-109del	XP_016878433.1:n.4555-147_4555-109del
NM_004380.3:c.4561-147_4561-109del MANE Select	NP_004371.2:n.4561-147_4561-109del