Canonical Allele Identifier: CA278954385
Community Standard Title: NM_002582.4(PARN):c.1670+246del
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14482405del , CM000678.2:g.14482405del GRCh38
NC_000016.9:g.14576262del , CM000678.1:g.14576262del GRCh37
NC_000016.8:g.14483763del NCBI36
NG_042871.1:g.152880del

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1670+246del MANE Select NP_002573.1:n.1670+246del
ENST00000437198.7:c.1670+246del MANE Select ENSP00000387911.2:n.1670+246del
NM_001134477.2:c.1487+246del NP_001127949.1:n.1487+246del
NM_001134477.3:c.1487+246del NP_001127949.1:n.1487+246del
NM_001242992.1:c.1532+246del NP_001229921.1:n.1532+246del
NM_001242992.2:c.1532+246del NP_001229921.1:n.1532+246del
NM_002582.3:c.1670+246del NP_002573.1:n.1670+246del
ENST00000341484.11:c.1487+246del ENSP00000345456.7:n.1487+246del
ENST00000420015.6:c.1532+246del ENSP00000410525.2:n.1532+246del
ENST00000437198.6:c.1670+246del ENSP00000387911.2:n.1670+246del
ENST00000539279.5:c.1145+246del ENSP00000444381.1:n.1145+246del
ENST00000564113.6:n.1780+246del
ENST00000564882.5:n.327+246del
ENST00000650960.1:c.1671-4del ENSP00000499110.1:n.1671-4del
ENST00000650990.1:c.1745+246del ENSP00000498741.1:n.1745+246del
ENST00000651049.1:c.1670+246del ENSP00000498644.1:n.1670+246del
ENST00000651300.1:c.*1477+246del ENSP00000498294.1:n.*1477+246del
ENST00000651348.1:c.*741+246del ENSP00000498315.1:n.*741+246del
ENST00000651634.1:c.1670+246del ENSP00000499078.1:n.1670+246del
ENST00000651760.1:c.2858+246del
ENST00000651865.1:c.1595+246del ENSP00000498567.1:n.1595+246del
ENST00000652051.1:c.*446+246del ENSP00000498898.1:n.*446+246del
ENST00000652066.1:c.1571+246del
ENST00000652541.1:c.*1502+246del ENSP00000499206.1:n.*1502+246del
ENST00000652727.1:c.1496+246del ENSP00000498650.1:n.1496+246del
ENST00000697471.1:n.2121+246del
ENST00000697472.1:n.1711+246del
ENST00000697473.1:n.3272+246del
ENST00000697474.1:c.1670+246del ENSP00000513329.1:n.1670+246del
XM_011522510.1:c.1670+246del XP_011520812.1:n.1670+246del
XM_011522510.3:c.1670+246del XP_011520812.1:n.1670+246del
XM_011522511.1:c.1670+246del XP_011520813.1:n.1670+246del
XM_011522511.2:c.1670+246del XP_011520813.1:n.1670+246del
XM_011522512.1:c.1583+246del XP_011520814.1:n.1583+246del
XM_011522513.1:c.1487+246del XP_011520815.1:n.1487+246del
XM_011522513.2:c.1487+246del XP_011520815.1:n.1487+246del
XM_017023258.2:c.1592+246del XP_016878747.1:n.1592+246del
XM_017023259.2:c.833+246del XP_016878748.1:n.833+246del
XM_017023260.1:c.833+246del XP_016878749.1:n.833+246del
XM_024450292.1:c.833+246del XP_024306060.1:n.833+246del