Canonical Allele Identifier: CA8159124

Linked Data

dbSNP Id: rs776001356

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060160del , CM000678.2:g.72060160del GRCh38
NC_000016.9:g.72094059del , CM000678.1:g.72094059del GRCh37
NC_000016.8:g.70651560del NCBI36
NG_012651.1:g.10552del
NG_030311.1:g.1935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.491del (HP) MANE Select ENSP00000348170.5:p.Gly164ValfsTer28
ENST00000228226.12:c.116del (HP) ENSP00000228226.9:p.Gly39ValfsTer28
ENST00000355906.9:c.491del (HP) ENSP00000348170.5:p.Gly164ValfsTer28
ENST00000357763.8:c.599del (HP) ENSP00000350406.5:p.Gly200ValfsTer28
ENST00000398131.6:c.314del (HP) ENSP00000381199.2:p.Gly105ValfsTer28
ENST00000562153.5:c.285-15801del (TXNL4B) ENSP00000454635.1:n.285-15801del
ENST00000562526.5:c.266-503del (HP) ENSP00000454413.1:n.266-503del
ENST00000564499.5:c.266-72del (HP) ENSP00000456503.1:n.266-72del
ENST00000565574.5:c.314del (HP) ENSP00000454966.1:p.Gly105ValfsTer28
ENST00000566821.1:n.2130del (HP)
ENST00000567185.7:c.483del (HP)
ENST00000567612.2:c.438-72del (HP)
ENST00000570083.5:c.314del (HP) ENSP00000457629.1:p.Gly105ValfsTer28
ENST00000613898.1:c.116del (HP) ENSP00000478279.1:p.Gly39ValfsTer28
NM_001126102.1:c.314del (HP) NP_001119574.1:p.Gly105ValfsTer28
NM_005143.3:c.491del (HP) NP_005134.1:p.Gly164ValfsTer28
XM_005255922.3:c.314del (HP) XP_005255979.2:p.Gly105ValfsTer28
NM_001126102.2:c.314del (HP) NP_001119574.1:p.Gly105ValfsTer28
NM_001318138.1:c.314del (HP) NP_001305067.1:p.Gly105ValfsTer28
NM_005143.4:c.491del (HP) NP_005134.1:p.Gly164ValfsTer28
XM_017023377.2:c.285-15801del (TXNL4B) XP_016878866.1:n.285-15801del
NM_001318138.2:c.314del (HP) NP_001305067.1:p.Gly105ValfsTer28
NM_005143.5:c.491del (HP) MANE Select NP_005134.1:p.Gly164ValfsTer28
NM_001126102.3:c.314del (HP) NP_001119574.1:p.Gly105ValfsTer28