Canonical Allele Identifier: CA620714612

Gene: CREBBP

Linked Data

• dbSNP Id: rs1427612756
• gnomAD v2: 16-3786307-CAG-C
• gnomAD v3: 16-3736306-CAG-C
• gnomAD v4: 16-3736306-CAG-C
• MyVariant Identifiers: chr16:g.3786308_3786309del (hg19) ; chr16:g.3736307_3736308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736309_3736310del , CM000678.2:g.3736309_3736310del	GRCh38
NC_000016.9:g.3786310_3786311del , CM000678.1:g.3786310_3786311del	GRCh37
NC_000016.8:g.3726311_3726312del	NCBI36
NG_009873.1:g.148813_148814del
NG_009873.2:g.149406_149407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-105_4561-104del MANE Select	ENSP00000262367.5:n.4561-105_4561-104del
ENST00000262367.9:c.4561-105_4561-104del	ENSP00000262367.5:n.4561-105_4561-104del
ENST00000382070.7:c.4447-105_4447-104del	ENSP00000371502.3:n.4447-105_4447-104del
ENST00000570939.2:c.3196-105_3196-104del	ENSP00000461002.2:n.3196-105_3196-104del
ENST00000571763.5:n.351-105_351-104del
ENST00000576720.1:n.3384-105_3384-104del
NM_001079846.1:c.4447-105_4447-104del	NP_001073315.1:n.4447-105_4447-104del
NM_004380.2:c.4561-105_4561-104del	NP_004371.2:n.4561-105_4561-104del
XM_005255124.3:c.4516-105_4516-104del	XP_005255181.1:n.4516-105_4516-104del
XM_005255125.3:c.4144-105_4144-104del	XP_005255182.1:n.4144-105_4144-104del
XM_006720848.2:c.4300-105_4300-104del	XP_006720911.1:n.4300-105_4300-104del
XM_011522380.1:c.4507-105_4507-104del	XP_011520682.1:n.4507-105_4507-104del
XM_011522381.1:c.3808-105_3808-104del	XP_011520683.1:n.3808-105_3808-104del
XM_005255124.4:c.4516-105_4516-104del	XP_005255181.1:n.4516-105_4516-104del
XM_005255125.4:c.4144-105_4144-104del	XP_005255182.1:n.4144-105_4144-104del
XM_006720848.3:c.4300-105_4300-104del	XP_006720911.1:n.4300-105_4300-104del
XM_011522381.2:c.3808-105_3808-104del	XP_011520683.1:n.3808-105_3808-104del
XM_017022944.1:c.4555-105_4555-104del	XP_016878433.1:n.4555-105_4555-104del
NM_004380.3:c.4561-105_4561-104del MANE Select	NP_004371.2:n.4561-105_4561-104del