Canonical Allele Identifier: CA658798524

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 503883
• ClinVar RCV Id: RCV000598901
• dbSNP Id: rs1555471086
• MyVariant Identifiers: chr16:g.3778828del (hg19) ; chr16:g.3728827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728829del , CM000678.2:g.3728829del	GRCh38
NC_000016.9:g.3778830del , CM000678.1:g.3778830del	GRCh37
NC_000016.8:g.3718831del	NCBI36
NG_009873.1:g.156294del
NG_009873.2:g.156887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6220del MANE Select	ENSP00000262367.5:p.Leu2074Ter
ENST00000262367.9:c.6220del	ENSP00000262367.5:p.Leu2074Ter
ENST00000382070.7:c.6106del	ENSP00000371502.3:p.Leu2036Ter
NM_001079846.1:c.6106del	NP_001073315.1:p.Leu2036Ter
NM_004380.2:c.6220del	NP_004371.2:p.Leu2074Ter
XM_005255124.3:c.6175del	XP_005255181.1:p.Leu2059Ter
XM_005255125.3:c.5803del	XP_005255182.1:p.Leu1935Ter
XM_006720848.2:c.5959del	XP_006720911.1:p.Leu1987Ter
XM_011522380.1:c.6166del	XP_011520682.1:p.Leu2056Ter
XM_011522381.1:c.5467del	XP_011520683.1:p.Leu1823Ter
XM_005255124.4:c.6175del	XP_005255181.1:p.Leu2059Ter
XM_005255125.4:c.5803del	XP_005255182.1:p.Leu1935Ter
XM_006720848.3:c.5959del	XP_006720911.1:p.Leu1987Ter
XM_011522381.2:c.5467del	XP_011520683.1:p.Leu1823Ter
XM_017022944.1:c.6214del	XP_016878433.1:p.Leu2072Ter
NM_004380.3:c.6220del MANE Select	NP_004371.2:p.Leu2074Ter