Canonical Allele Identifier: CA16616816

Linked Data

ClinVar Variation Id: 223083
ClinVar RCV Id: RCV000208695
dbSNP Id: rs1060499535

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526319del , CM000684.2:g.50526319del GRCh38
NC_000022.10:g.50964748del , CM000684.1:g.50964748del GRCh37
NC_000022.9:g.49311614del NCBI36
NG_011860.1:g.8769del , LRG_727:g.8769del
NG_016235.1:g.5123del
NG_021419.1:g.23104del

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1088del (TYMP) MANE Select ENSP00000252029.3:p.Gly363GlufsTer?
ENST00000395680.6:c.1088del (TYMP) ENSP00000379037.1:p.Gly363GlufsTer?
ENST00000395681.6:c.1088del (TYMP) ENSP00000379038.1:p.Gly363GlufsTer?
ENST00000543927.6:c.-85del (SCO2) ENSP00000444433.1:n.-85del
ENST00000650719.1:c.969del (TYMP) ENSP00000498276.1:p.Lys324SerfsTer?
ENST00000651490.1:c.21del (TYMP)
ENST00000652401.1:c.589del (TYMP)
ENST00000252029.7:c.1088del (TYMP) ENSP00000252029.3:p.Gly363GlufsTer?
ENST00000395678.7:c.1088del (TYMP) ENSP00000379036.3:p.Gly363GlufsTer?
ENST00000395680.5:c.1088del (TYMP) ENSP00000379037.1:p.Gly363GlufsTer?
ENST00000395681.5:c.1088del (TYMP) ENSP00000379038.1:p.Gly363GlufsTer?
ENST00000423348.1:c.-85del ENSP00000403570.1:n.-85del
ENST00000425169.1:c.989del (TYMP) ENSP00000395875.1:p.Gly330GlufsTer?
ENST00000476284.1:n.1094del (TYMP)
ENST00000487577.5:n.1375del (TYMP)
ENST00000543927.5:c.-85del ENSP00000444433.1:n.-85del
NM_001113755.2:c.1088del (TYMP) NP_001107227.1:p.Gly363GlufsTer?
NM_001113756.2:c.1088del (TYMP) NP_001107228.1:p.Gly363GlufsTer?
NM_001169109.1:c.-85del (SCO2) NP_001162580.1:n.-85del
NM_001257988.1:c.1088del , LRG_727t1:c.1088del (TYMP) NP_001244917.1:p.Gly363GlufsTer?
NM_001257989.1:c.1088del , LRG_727t2:c.1088del (TYMP) NP_001244918.1:p.Gly363GlufsTer?
NM_001953.4:c.1088del (TYMP) NP_001944.1:p.Gly363GlufsTer?
NM_001113755.3:c.1088del (TYMP) NP_001107227.1:p.Gly363GlufsTer?
NM_001113756.3:c.1088del (TYMP) NP_001107228.1:p.Gly363GlufsTer?
NM_001953.5:c.1088del (TYMP) MANE Select NP_001944.1:p.Gly363GlufsTer?
NM_001169109.2:c.-85del (SCO2) NP_001162580.1:n.-85del