Canonical Allele Identifier: CA973915990

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053517045
• gnomAD v3: 16-3791948-TCTC-T
• gnomAD v4: 16-3791948-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791950_3791952del , CM000678.2:g.3791950_3791952del	GRCh38
NC_000016.9:g.3841951_3841953del , CM000678.1:g.3841951_3841953del	GRCh37
NC_000016.8:g.3781952_3781954del	NCBI36
NG_009873.1:g.93170_93172del
NG_009873.2:g.93763_93765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1330+30_1330+32del MANE Select	ENSP00000262367.5:n.1330+30_1330+32del
ENST00000262367.9:c.1330+30_1330+32del	ENSP00000262367.5:n.1330+30_1330+32del
ENST00000382070.7:c.1216+1435_1216+1437del	ENSP00000371502.3:n.1216+1435_1216+1437del
NM_001079846.1:c.1216+1435_1216+1437del	NP_001073315.1:n.1216+1435_1216+1437del
NM_004380.2:c.1330+30_1330+32del	NP_004371.2:n.1330+30_1330+32del
XM_005255124.3:c.1330+30_1330+32del	XP_005255181.1:n.1330+30_1330+32del
XM_005255125.3:c.1330+30_1330+32del	XP_005255182.1:n.1330+30_1330+32del
XM_006720848.2:c.1330+30_1330+32del	XP_006720911.1:n.1330+30_1330+32del
XM_011522380.1:c.1276+30_1276+32del	XP_011520682.1:n.1276+30_1276+32del
XM_011522381.1:c.577+30_577+32del	XP_011520683.1:n.577+30_577+32del
XM_011522382.1:c.1330+30_1330+32del	XP_011520684.1:n.1330+30_1330+32del
XM_005255124.4:c.1330+30_1330+32del	XP_005255181.1:n.1330+30_1330+32del
XM_005255125.4:c.1330+30_1330+32del	XP_005255182.1:n.1330+30_1330+32del
XM_006720848.3:c.1330+30_1330+32del	XP_006720911.1:n.1330+30_1330+32del
XM_011522381.2:c.577+30_577+32del	XP_011520683.1:n.577+30_577+32del
XM_011522382.3:c.1330+30_1330+32del	XP_011520684.1:n.1330+30_1330+32del
XM_017022944.1:c.1330+30_1330+32del	XP_016878433.1:n.1330+30_1330+32del
NM_004380.3:c.1330+30_1330+32del MANE Select	NP_004371.2:n.1330+30_1330+32del