Canonical Allele Identifier: CA9555083

Gene: DBP

Linked Data

• dbSNP Id: rs770255978
• ExAC: 19:49136711 TCCG / T
• MyVariant Identifiers: chr19:g.49136712_49136714del (hg19) ; chr19:g.48633455_48633457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633455_48633457del , CM000681.2:g.48633455_48633457del	GRCh38
NC_000019.9:g.49136712_49136714del , CM000681.1:g.49136712_49136714del	GRCh37
NC_000019.8:g.53828524_53828526del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.749_751del MANE Select	ENSP00000222122.4:p.Pro250_Glu251delinsGln
ENST00000222122.9:c.749_751del	ENSP00000222122.4:p.Pro250_Glu251delinsGln
ENST00000593500.1:c.143_145del	ENSP00000471220.1:p.Pro48_Glu49delinsGln
ENST00000594723.1:n.2992_2994del
ENST00000599385.5:c.143_145del	ENSP00000469426.1:p.Pro48_Glu49delinsGln
ENST00000601104.1:c.749_751del	ENSP00000469291.1:p.Pro250_Glu251delinsGln
NM_001352.4:c.749_751del	NP_001343.2:p.Pro250_Glu251delinsGln
XM_017026388.2:c.320_322del	XP_016881877.1:p.Pro107_Glu108delinsGln
XR_243907.4:n.1654_1656del
NM_001352.5:c.749_751del MANE Select	NP_001343.2:p.Pro250_Glu251delinsGln