Canonical Allele Identifier: CA84501254
Community Standard Title: NM_182943.3(PLOD2):c.1848+284_1848+285del
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146072276_146072277del , CM000665.2:g.146072276_146072277del GRCh38
NC_000003.11:g.145790063_145790064del , CM000665.1:g.145790063_145790064del GRCh37
NC_000003.10:g.147272753_147272754del NCBI36
NG_009251.1:g.94219_94220del

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1848+284_1848+285del MANE Select NP_891988.1:n.1848+284_1848+285del
ENST00000282903.10:c.1848+284_1848+285del MANE Select ENSP00000282903.5:n.1848+284_1848+285del
NM_000935.2:c.1785+284_1785+285del NP_000926.2:n.1785+284_1785+285del
NM_000935.3:c.1785+284_1785+285del NP_000926.2:n.1785+284_1785+285del
NM_182943.2:c.1848+284_1848+285del NP_891988.1:n.1848+284_1848+285del
ENST00000282903.9:c.1848+284_1848+285del ENSP00000282903.5:n.1848+284_1848+285del
ENST00000360060.7:c.1785+284_1785+285del ENSP00000353170.3:n.1785+284_1785+285del
ENST00000461497.5:c.828+284_828+285del ENSP00000419354.1:n.828+284_828+285del
ENST00000469350.6:c.1701+284_1701+285del ENSP00000419963.2:n.1701+284_1701+285del
ENST00000480704.2:c.*1612+284_*1612+285del ENSP00000419880.1:n.*1612+284_*1612+285del
ENST00000494950.5:c.1683+284_1683+285del ENSP00000420094.1:n.1683+284_1683+285del
ENST00000703517.1:n.579+30478_579+30479del
ENST00000703518.1:c.1848+284_1848+285del ENSP00000515350.1:n.1848+284_1848+285del
ENST00000703519.1:n.1865+284_1865+285del
ENST00000703520.1:c.*262+284_*262+285del ENSP00000515351.1:n.*262+284_*262+285del
ENST00000703521.1:c.*1200+284_*1200+285del ENSP00000515352.1:n.*1200+284_*1200+285del
ENST00000703522.1:c.1848+284_1848+285del ENSP00000515353.1:n.1848+284_1848+285del
ENST00000703523.1:c.1785+284_1785+285del ENSP00000515354.1:n.1785+284_1785+285del
ENST00000703524.1:n.1668+284_1668+285del
ENST00000703525.1:n.4200+284_4200+285del
ENST00000703526.1:n.1216+284_1216+285del
ENST00000703527.1:c.1848+284_1848+285del ENSP00000515355.1:n.1848+284_1848+285del
ENST00000703528.1:c.1440-2183_1440-2182del ENSP00000515356.1:n.1440-2183_1440-2182del
ENST00000706626.1:c.1671+284_1671+285del ENSP00000516472.1:n.1671+284_1671+285del
ENST00000706631.1:n.2293+284_2293+285del
ENST00000706632.1:n.712+284_712+285del
ENST00000706633.1:n.1967_1968del
ENST00000706634.1:n.3009+284_3009+285del
ENST00000706635.1:c.1680+284_1680+285del ENSP00000516475.1:n.1680+284_1680+285del
ENST00000706636.1:c.*1137+284_*1137+285del ENSP00000516476.1:n.*1137+284_*1137+285del
XM_005247535.3:c.1572+284_1572+285del XP_005247592.1:n.1572+284_1572+285del
XM_005247535.4:c.1572+284_1572+285del XP_005247592.1:n.1572+284_1572+285del
XM_017006625.2:c.1572+284_1572+285del XP_016862114.1:n.1572+284_1572+285del
XM_024453599.1:c.1509+284_1509+285del XP_024309367.1:n.1509+284_1509+285del
XR_001740176.2:n.2116+284_2116+285del