Canonical Allele Identifier: CA2671807187

Gene: LARP7

Linked Data

• gnomAD v4: 4-112646407-G-GGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646409_112646412dup , CM000666.2:g.112646409_112646412dup	GRCh38
NC_000004.11:g.113567565_113567568dup , CM000666.1:g.113567565_113567568dup	GRCh37
NC_000004.10:g.113787014_113787017dup	NCBI36
NG_032779.1:g.14446_14449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.261_264dup	ENSP00000421541.2:p.Leu89GlufsTer16
ENST00000505216.2:c.*20_*23dup	ENSP00000424116.1:n.*20_*23dup
ENST00000694891.1:c.261_264dup	ENSP00000511571.1:p.Leu89GlufsTer16
ENST00000694892.1:n.265_268dup
ENST00000694893.1:n.354_357dup
ENST00000694894.1:c.261_264dup	ENSP00000511572.1:p.Leu89GlufsTer16
ENST00000694895.1:c.261_264dup	ENSP00000511573.1:p.Leu89GlufsTer16
ENST00000694896.1:c.261_264dup	ENSP00000511574.1:p.Leu89GlufsTer16
ENST00000694897.1:c.261_264dup	ENSP00000511575.1:p.Leu89GlufsTer16
ENST00000694898.1:c.261_264dup	ENSP00000511576.1:p.Leu89GlufsTer16
ENST00000694899.1:c.261_264dup	ENSP00000511577.1:p.Leu89GlufsTer16
ENST00000694900.1:c.261_264dup	ENSP00000511578.1:p.Leu89GlufsTer16
ENST00000694901.1:c.*20_*23dup	ENSP00000511579.1:n.*20_*23dup
ENST00000694902.1:n.782_785dup
ENST00000511529.2:c.261_264dup	ENSP00000426376.2:p.Leu89GlufsTer16
ENST00000512361.2:n.370_373dup
ENST00000512589.6:c.*67_*70dup	ENSP00000426709.1:n.*67_*70dup
ENST00000684864.1:c.261_264dup	ENSP00000509993.1:p.Leu89GlufsTer16
ENST00000688617.1:n.535_538dup
ENST00000689262.1:n.1412_1415dup
ENST00000689844.1:c.261_264dup	ENSP00000509899.1:p.Leu89GlufsTer16
ENST00000690008.1:c.*20_*23dup	ENSP00000508938.1:n.*20_*23dup
ENST00000692075.1:n.426_429dup
ENST00000692168.1:n.349_352dup
ENST00000692416.1:c.24_27dup	ENSP00000509527.1:p.Leu10GlufsTer16
ENST00000693375.1:c.24_27dup	ENSP00000508585.1:p.Leu10GlufsTer16
ENST00000693442.1:c.261_264dup	ENSP00000509975.1:p.Leu89GlufsTer16
ENST00000344442.10:c.261_264dup MANE Select	ENSP00000344950.5:p.Leu89GlufsTer16
ENST00000651579.1:c.261_264dup	ENSP00000499190.1:p.Leu89GlufsTer16
ENST00000324052.10:c.261_264dup	ENSP00000314311.6:p.Leu89GlufsTer16
ENST00000344442.9:c.261_264dup	ENSP00000344950.5:p.Leu89GlufsTer16
ENST00000505034.5:c.261_264dup	ENSP00000421541.1:p.Leu89GlufsTer16
ENST00000505216.1:c.*20_*23dup	ENSP00000424116.1:n.*20_*23dup
ENST00000507443.1:c.261_264dup	ENSP00000421963.1:p.Leu89GlufsTer16
ENST00000508577.5:c.261_264dup	ENSP00000426646.1:p.Leu89GlufsTer16
ENST00000509061.5:c.282_285dup	ENSP00000422626.1:p.Leu96GlufsTer16
ENST00000509622.5:c.*20_*23dup	ENSP00000422451.1:n.*20_*23dup
ENST00000512589.5:c.*67_*70dup	ENSP00000426709.1:n.*67_*70dup
ENST00000513553.5:c.31-1310_31-1307dup	ENSP00000422013.1:n.31-1310_31-1307dup
NM_001267039.1:c.282_285dup	NP_001253968.1:p.Leu96GlufsTer16
NM_015454.2:c.261_264dup	NP_056269.1:p.Leu89GlufsTer16
NM_016648.3:c.261_264dup	NP_057732.2:p.Leu89GlufsTer16
NR_049768.1:n.436_439dup
XM_024454080.1:c.261_264dup	XP_024309848.1:p.Leu89GlufsTer16
XM_024454081.1:c.261_264dup	XP_024309849.1:p.Leu89GlufsTer16
XM_024454082.1:c.261_264dup	XP_024309850.1:p.Leu89GlufsTer16
XM_024454083.1:c.261_264dup	XP_024309851.1:p.Leu89GlufsTer16
XM_024454084.1:c.261_264dup	XP_024309852.1:p.Leu89GlufsTer16
XM_024454085.1:c.261_264dup	XP_024309853.1:p.Leu89GlufsTer16
XM_024454086.1:c.24_27dup	XP_024309854.1:p.Leu10GlufsTer16
XM_024454087.1:c.24_27dup	XP_024309855.1:p.Leu10GlufsTer16
XM_024454088.1:c.24_27dup	XP_024309856.1:p.Leu10GlufsTer16
XM_024454089.1:c.-676_-673dup	XP_024309857.1:n.-676_-673dup
NM_016648.4:c.261_264dup MANE Select	NP_057732.2:p.Leu89GlufsTer16
NM_001370974.1:c.261_264dup	NP_001357903.1:p.Leu89GlufsTer16
NM_001370975.1:c.261_264dup	NP_001357904.1:p.Leu89GlufsTer16
NM_001370976.1:c.261_264dup	NP_001357905.1:p.Leu89GlufsTer16
NM_001370977.1:c.261_264dup	NP_001357906.1:p.Leu89GlufsTer16
NM_001370978.1:c.261_264dup	NP_001357907.1:p.Leu89GlufsTer16
NM_001370979.1:c.261_264dup	NP_001357908.1:p.Leu89GlufsTer16
NM_001370980.1:c.261_264dup	NP_001357909.1:p.Leu89GlufsTer16
NM_001370981.1:c.24_27dup	NP_001357910.1:p.Leu10GlufsTer16
NM_001370982.1:c.24_27dup	NP_001357911.1:p.Leu10GlufsTer16
NM_001267039.2:c.282_285dup	NP_001253968.1:p.Leu96GlufsTer16
NM_015454.3:c.261_264dup	NP_056269.1:p.Leu89GlufsTer16
NM_001267039.4:c.261_264dup	NP_001253968.2:p.Leu89GlufsTer16