Canonical Allele Identifier: CA9555093

Gene: DBP

Linked Data

• dbSNP Id: rs763297830
• ExAC: 19:49136732 GCCTTCTTCATGAT / G
• MyVariant Identifiers: chr19:g.49136733_49136745del (hg19) ; chr19:g.48633476_48633488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633476_48633488del , CM000681.2:g.48633476_48633488del	GRCh38
NC_000019.9:g.49136733_49136745del , CM000681.1:g.49136733_49136745del	GRCh37
NC_000019.8:g.53828545_53828557del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.718_730del MANE Select	ENSP00000222122.4:p.Ile240GlnfsTer?
ENST00000222122.9:c.718_730del	ENSP00000222122.4:p.Ile240GlnfsTer?
ENST00000593500.1:c.112_124del	ENSP00000471220.1:p.Ile38GlnfsTer?
ENST00000594723.1:n.2961_2973del
ENST00000599385.5:c.112_124del	ENSP00000469426.1:p.Ile38GlnfsTer?
ENST00000601104.1:c.718_730del	ENSP00000469291.1:p.Ile240GlnfsTer12
NM_001352.4:c.718_730del	NP_001343.2:p.Ile240GlnfsTer?
XM_017026388.2:c.289_301del	XP_016881877.1:p.Ile97GlnfsTer?
XR_243907.4:n.1623_1635del
NM_001352.5:c.718_730del MANE Select	NP_001343.2:p.Ile240GlnfsTer?