Canonical Allele Identifier: CA8354941

Gene: WRAP53

Linked Data

• ClinVar Variation Id: 1433393
• ClinVar RCV Id: RCV001944412
• dbSNP Id: rs757652943
• ExAC: 17:7592325 GGCCAGAGTTGGGGTCTGGAAAA / G
• gnomAD v2: 17-7592325-GGCCAGAGTTGGGGTCTGGAAAA-G
• gnomAD v4: 17-7689007-GGCCAGAGTTGGGGTCTGGAAAA-G
• MyVariant Identifiers: chr17:g.7592326_7592347del (hg19) ; chr17:g.7689008_7689029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7689012_7689033del , CM000679.2:g.7689012_7689033del	GRCh38
NC_000017.10:g.7592330_7592351del , CM000679.1:g.7592330_7592351del	GRCh37
NC_000017.9:g.7533055_7533076del	NCBI36
NG_017013.2:g.3522_3543del , LRG_321:g.3522_3543del
NG_028245.1:g.7942_7963del , LRG_375:g.7942_7963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698742.1:c.364_385del	ENSP00000513904.1:p.Glu122TrpfsTer?
ENST00000698743.1:c.364_385del	ENSP00000513905.1:p.Glu122TrpfsTer?
ENST00000698744.1:c.364_385del	ENSP00000513906.1:p.Glu122TrpfsTer?
ENST00000698745.1:c.364_385del	ENSP00000513907.1:p.Glu122TrpfsTer?
ENST00000698746.1:c.364_385del	ENSP00000513908.1:p.Glu122TrpfsTer?
ENST00000396463.7:c.364_385del MANE Select	ENSP00000379727.3:p.Glu122TrpfsTer?
ENST00000316024.9:c.364_385del	ENSP00000324203.5:p.Glu122TrpfsTer?
ENST00000396463.6:c.364_385del	ENSP00000379727.2:p.Glu122TrpfsTer?
ENST00000431639.6:c.364_385del	ENSP00000397219.2:p.Glu122TrpfsTer?
ENST00000457584.6:c.364_385del	ENSP00000411061.2:p.Glu122TrpfsTer?
ENST00000467699.5:n.450_471del
ENST00000498311.5:c.364_385del	ENSP00000432991.1:p.Glu122TrpfsTer?
ENST00000534050.5:c.364_385del	ENSP00000434999.1:p.Glu122TrpfsTer24
NM_001143990.1:c.364_385del	NP_001137462.1:p.Glu122TrpfsTer?
NM_001143991.1:c.364_385del	NP_001137463.1:p.Glu122TrpfsTer?
NM_001143992.1:c.364_385del	NP_001137464.1:p.Glu122TrpfsTer?
NM_018081.2:c.364_385del , LRG_375t1:c.364_385del	NP_060551.2:p.Glu122TrpfsTer?
XM_011523952.2:c.-269_-248del	XP_011522254.1:n.-269_-248del
XM_024450824.1:c.-1712_-1691del	XP_024306592.1:n.-1712_-1691del
XM_024450825.1:c.364_385del	XP_024306593.1:p.Glu122TrpfsTer?
XR_001752551.2:n.609_630del
NM_001143991.2:c.364_385del	NP_001137463.1:p.Glu122TrpfsTer?
NM_001143992.2:c.364_385del MANE Select	NP_001137464.1:p.Glu122TrpfsTer?
NM_001143990.2:c.364_385del	NP_001137462.1:p.Glu122TrpfsTer?