Canonical Allele Identifier: CA645294034
Gene: LARP7 HGNC NCBI

Linked Data

ClinVar Variation Id: 426686
ClinVar RCV Id: RCV000489417
dbSNP Id: rs1085307744

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.112646446dup , CM000666.2:g.112646446dup GRCh38
NC_000004.11:g.113567602dup , CM000666.1:g.113567602dup GRCh37
NC_000004.10:g.113787051dup NCBI36
NG_032779.1:g.14483dup

Transcript Alleles

HGVS Amino-acid change
ENST00000505034.6:c.298dup ENSP00000421541.2:p.Val100GlyfsTer4
ENST00000505216.2:c.*57dup ENSP00000424116.1:n.*57dup
ENST00000694891.1:c.298dup ENSP00000511571.1:p.Val100GlyfsTer4
ENST00000694892.1:n.302dup
ENST00000694893.1:n.391dup
ENST00000694894.1:c.298dup ENSP00000511572.1:p.Val100GlyfsTer4
ENST00000694895.1:c.298dup ENSP00000511573.1:p.Val100GlyfsTer4
ENST00000694896.1:c.298dup ENSP00000511574.1:p.Val100GlyfsTer4
ENST00000694897.1:c.298dup ENSP00000511575.1:p.Val100GlyfsTer4
ENST00000694898.1:c.298dup ENSP00000511576.1:p.Val100GlyfsTer4
ENST00000694899.1:c.298dup ENSP00000511577.1:p.Val100GlyfsTer4
ENST00000694900.1:c.298dup ENSP00000511578.1:p.Val100GlyfsTer4
ENST00000694901.1:c.*57dup ENSP00000511579.1:n.*57dup
ENST00000694902.1:n.819dup
ENST00000511529.2:c.298dup ENSP00000426376.2:p.Val100GlyfsTer4
ENST00000512361.2:n.407dup
ENST00000512589.6:c.*104dup ENSP00000426709.1:n.*104dup
ENST00000684864.1:c.298dup ENSP00000509993.1:p.Val100GlyfsTer4
ENST00000688617.1:n.572dup
ENST00000689262.1:n.1449dup
ENST00000689844.1:c.298dup ENSP00000509899.1:p.Val100GlyfsTer4
ENST00000690008.1:c.*57dup ENSP00000508938.1:n.*57dup
ENST00000692075.1:n.463dup
ENST00000692168.1:n.386dup
ENST00000692416.1:c.61dup ENSP00000509527.1:p.Val21GlyfsTer4
ENST00000693375.1:c.61dup ENSP00000508585.1:p.Val21GlyfsTer4
ENST00000693442.1:c.298dup ENSP00000509975.1:p.Val100GlyfsTer4
ENST00000344442.10:c.298dup MANE Select ENSP00000344950.5:p.Val100GlyfsTer4
ENST00000651579.1:c.298dup ENSP00000499190.1:p.Val100GlyfsTer4
ENST00000324052.10:c.298dup ENSP00000314311.6:p.Val100GlyfsTer4
ENST00000344442.9:c.298dup ENSP00000344950.5:p.Val100GlyfsTer4
ENST00000505034.5:c.298dup ENSP00000421541.1:p.Val100GlyfsTer4
ENST00000505216.1:c.*57dup ENSP00000424116.1:n.*57dup
ENST00000507443.1:c.298dup ENSP00000421963.1:p.Val100GlyfsTer4
ENST00000508577.5:c.298dup ENSP00000426646.1:p.Val100GlyfsTer4
ENST00000509061.5:c.319dup ENSP00000422626.1:p.Val107GlyfsTer4
ENST00000509622.5:c.*57dup ENSP00000422451.1:n.*57dup
ENST00000512589.5:c.*104dup ENSP00000426709.1:n.*104dup
ENST00000513553.5:c.31-1273dup ENSP00000422013.1:n.31-1273dup
NM_001267039.1:c.319dup NP_001253968.1:p.Val107GlyfsTer4
NM_015454.2:c.298dup NP_056269.1:p.Val100GlyfsTer4
NM_016648.3:c.298dup NP_057732.2:p.Val100GlyfsTer4
NR_049768.1:n.473dup
XM_024454080.1:c.298dup XP_024309848.1:p.Val100GlyfsTer4
XM_024454081.1:c.298dup XP_024309849.1:p.Val100GlyfsTer4
XM_024454082.1:c.298dup XP_024309850.1:p.Val100GlyfsTer4
XM_024454083.1:c.298dup XP_024309851.1:p.Val100GlyfsTer4
XM_024454084.1:c.298dup XP_024309852.1:p.Val100GlyfsTer4
XM_024454085.1:c.298dup XP_024309853.1:p.Val100GlyfsTer4
XM_024454086.1:c.61dup XP_024309854.1:p.Val21GlyfsTer4
XM_024454087.1:c.61dup XP_024309855.1:p.Val21GlyfsTer4
XM_024454088.1:c.61dup XP_024309856.1:p.Val21GlyfsTer4
XM_024454089.1:c.-639dup XP_024309857.1:n.-639dup
NM_016648.4:c.298dup MANE Select NP_057732.2:p.Val100GlyfsTer4
NM_001370974.1:c.298dup NP_001357903.1:p.Val100GlyfsTer4
NM_001370975.1:c.298dup NP_001357904.1:p.Val100GlyfsTer4
NM_001370976.1:c.298dup NP_001357905.1:p.Val100GlyfsTer4
NM_001370977.1:c.298dup NP_001357906.1:p.Val100GlyfsTer4
NM_001370978.1:c.298dup NP_001357907.1:p.Val100GlyfsTer4
NM_001370979.1:c.298dup NP_001357908.1:p.Val100GlyfsTer4
NM_001370980.1:c.298dup NP_001357909.1:p.Val100GlyfsTer4
NM_001370981.1:c.61dup NP_001357910.1:p.Val21GlyfsTer4
NM_001370982.1:c.61dup NP_001357911.1:p.Val21GlyfsTer4
NM_001267039.2:c.319dup NP_001253968.1:p.Val107GlyfsTer4
NM_015454.3:c.298dup NP_056269.1:p.Val100GlyfsTer4
NM_001267039.4:c.298dup NP_001253968.2:p.Val100GlyfsTer4