Canonical Allele Identifier: CA719773523

Linked Data

dbSNP Id: rs1349378984

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29821617_29821618del , CM000678.2:g.29821617_29821618del GRCh38
NC_000016.9:g.29832938_29832939del , CM000678.1:g.29832938_29832939del GRCh37
NC_000016.8:g.29740439_29740440del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000320330.8:c.*1863_*1864del (PAGR1) MANE Select ENSP00000326519.6:n.*1863_*1864del
ENST00000357402.10:c.-36+1107_-36+1108del (MVP) MANE Select ENSP00000349977.5:n.-36+1107_-36+1108del
ENST00000357402.9:c.-36+1107_-36+1108del (MVP) ENSP00000349977.5:n.-36+1107_-36+1108del
ENST00000395353.5:c.-77+1107_-77+1108del (MVP) ENSP00000378760.1:n.-77+1107_-77+1108del
ENST00000562285.1:c.402+1715_402+1716del
ENST00000562463.5:c.-36+1107_-36+1108del (MVP) ENSP00000457734.1:n.-36+1107_-36+1108del
ENST00000563096.1:n.45+1107_45+1108del (MVP)
ENST00000563558.5:c.-77+1107_-77+1108del (MVP) ENSP00000454825.1:n.-77+1107_-77+1108del
ENST00000563915.5:c.-77+1107_-77+1108del (MVP) ENSP00000455819.1:n.-77+1107_-77+1108del
ENST00000565164.1:c.-36+244_-36+245del (MVP) ENSP00000454819.1:n.-36+244_-36+245del
ENST00000565830.5:n.34+1107_34+1108del (MVP)
ENST00000566066.5:c.-228+1107_-228+1108del (MVP) ENSP00000455186.1:n.-228+1107_-228+1108del
ENST00000566859.5:c.-36+1107_-36+1108del (MVP) ENSP00000455741.1:n.-36+1107_-36+1108del
ENST00000569887.1:c.-36+1107_-36+1108del (MVP) ENSP00000455532.1:n.-36+1107_-36+1108del
ENST00000570234.5:c.-146+226_-146+227del (MVP) ENSP00000456291.1:n.-146+226_-146+227del
NM_005115.4:c.-36+1107_-36+1108del (MVP) NP_005106.2:n.-36+1107_-36+1108del
NM_017458.3:c.-77+1107_-77+1108del (MVP) NP_059447.2:n.-77+1107_-77+1108del
NM_024516.3:c.*1863_*1864del (PAGR1) NP_078792.1:n.*1863_*1864del
NM_005115.5:c.-36+1107_-36+1108del (MVP) MANE Select NP_005106.2:n.-36+1107_-36+1108del
NM_024516.4:c.*1863_*1864del (PAGR1) MANE Select NP_078792.1:n.*1863_*1864del