Canonical Allele Identifier: CA2573052281

Gene: LARP7 MIR302CHG

Linked Data

• ClinVar Variation Id: 1324657
• ClinVar RCV Id: RCV001782377
• dbSNP Id: rs2149263749

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646825_112646832del , CM000666.2:g.112646825_112646832del	GRCh38
NC_000004.11:g.113567981_113567988del , CM000666.1:g.113567981_113567988del	GRCh37
NC_000004.10:g.113787430_113787437del	NCBI36
NG_032779.1:g.14862_14869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.422_429del (LARP7)	ENSP00000421541.2:p.Ile141SerfsTer17
ENST00000505216.2:c.*181_*188del (LARP7)	ENSP00000424116.1:n.*181_*188del
ENST00000694891.1:c.422_429del (LARP7)	ENSP00000511571.1:p.Ile141SerfsTer17
ENST00000694892.1:n.681_688del (LARP7)
ENST00000694893.1:n.770_777del (LARP7)
ENST00000694894.1:c.422_429del (LARP7)	ENSP00000511572.1:p.Ile141SerfsTer17
ENST00000694895.1:c.422_429del (LARP7)	ENSP00000511573.1:p.Ile141SerfsTer17
ENST00000694896.1:c.422_429del (LARP7)	ENSP00000511574.1:p.Ile141SerfsTer17
ENST00000694897.1:c.422_429del (LARP7)	ENSP00000511575.1:p.Ile141SerfsTer17
ENST00000694898.1:c.422_429del (LARP7)	ENSP00000511576.1:p.Ile141SerfsTer17
ENST00000694899.1:c.422_429del (LARP7)	ENSP00000511577.1:p.Ile141SerfsTer17
ENST00000694900.1:c.422_429del (LARP7)	ENSP00000511578.1:p.Ile141SerfsTer17
ENST00000694901.1:c.*181_*188del (LARP7)	ENSP00000511579.1:n.*181_*188del
ENST00000694902.1:n.1062_1069del (LARP7)
ENST00000511529.2:c.422_429del (LARP7)	ENSP00000426376.2:p.Ile141SerfsTer17
ENST00000512361.2:n.531_538del (LARP7)
ENST00000512589.6:c.*228_*235del (LARP7)	ENSP00000426709.1:n.*228_*235del
ENST00000684864.1:c.422_429del (LARP7)	ENSP00000509993.1:p.Ile141SerfsTer17
ENST00000688617.1:n.696_703del (LARP7)
ENST00000689262.1:n.1573_1580del (LARP7)
ENST00000689844.1:c.422_429del (LARP7)	ENSP00000509899.1:p.Ile141SerfsTer17
ENST00000690008.1:c.*181_*188del (LARP7)	ENSP00000508938.1:n.*181_*188del
ENST00000692075.1:n.587_594del (LARP7)
ENST00000692168.1:n.510_517del (LARP7)
ENST00000692416.1:c.185_192del (LARP7)	ENSP00000509527.1:p.Ile62SerfsTer17
ENST00000693375.1:c.185_192del (LARP7)	ENSP00000508585.1:p.Ile62SerfsTer17
ENST00000693442.1:c.422_429del (LARP7)	ENSP00000509975.1:p.Ile141SerfsTer17
ENST00000344442.10:c.422_429del (LARP7) MANE Select	ENSP00000344950.5:p.Ile141SerfsTer17
ENST00000651579.1:c.422_429del (LARP7)	ENSP00000499190.1:p.Ile141SerfsTer17
ENST00000324052.10:c.422_429del (LARP7)	ENSP00000314311.6:p.Ile141SerfsTer17
ENST00000344442.9:c.422_429del (LARP7)	ENSP00000344950.5:p.Ile141SerfsTer17
ENST00000505034.5:c.422_429del (LARP7)	ENSP00000421541.1:p.Ile141SerfsTer17
ENST00000505216.1:c.*181_*188del (LARP7)	ENSP00000424116.1:n.*181_*188del
ENST00000509061.5:c.443_450del (LARP7)	ENSP00000422626.1:p.Ile148SerfsTer17
ENST00000509622.5:c.*181_*188del (LARP7)	ENSP00000422451.1:n.*181_*188del
ENST00000513553.5:c.31-894_31-887del (LARP7)	ENSP00000422013.1:n.31-894_31-887del
NM_001267039.1:c.443_450del (LARP7)	NP_001253968.1:p.Ile148SerfsTer17
NM_015454.2:c.422_429del (LARP7)	NP_056269.1:p.Ile141SerfsTer17
NM_016648.3:c.422_429del (LARP7)	NP_057732.2:p.Ile141SerfsTer17
NR_049768.1:n.597_604del (LARP7)
NR_146092.1:n.286_293del (MIR302CHG)
NR_146093.1:n.242_249del (MIR302CHG)
NR_146094.1:n.189_196del (MIR302CHG)
XM_024454080.1:c.422_429del (LARP7)	XP_024309848.1:p.Ile141SerfsTer17
XM_024454081.1:c.422_429del (LARP7)	XP_024309849.1:p.Ile141SerfsTer17
XM_024454082.1:c.422_429del (LARP7)	XP_024309850.1:p.Ile141SerfsTer17
XM_024454083.1:c.422_429del (LARP7)	XP_024309851.1:p.Ile141SerfsTer17
XM_024454084.1:c.422_429del (LARP7)	XP_024309852.1:p.Ile141SerfsTer17
XM_024454085.1:c.422_429del (LARP7)	XP_024309853.1:p.Ile141SerfsTer17
XM_024454086.1:c.185_192del (LARP7)	XP_024309854.1:p.Ile62SerfsTer17
XM_024454087.1:c.185_192del (LARP7)	XP_024309855.1:p.Ile62SerfsTer17
XM_024454088.1:c.185_192del (LARP7)	XP_024309856.1:p.Ile62SerfsTer17
XM_024454089.1:c.-260_-253del (LARP7)	XP_024309857.1:n.-260_-253del
NM_016648.4:c.422_429del (LARP7) MANE Select	NP_057732.2:p.Ile141SerfsTer17
NM_001370974.1:c.422_429del (LARP7)	NP_001357903.1:p.Ile141SerfsTer17
NM_001370975.1:c.422_429del (LARP7)	NP_001357904.1:p.Ile141SerfsTer17
NM_001370976.1:c.422_429del (LARP7)	NP_001357905.1:p.Ile141SerfsTer17
NM_001370977.1:c.422_429del (LARP7)	NP_001357906.1:p.Ile141SerfsTer17
NM_001370978.1:c.422_429del (LARP7)	NP_001357907.1:p.Ile141SerfsTer17
NM_001370979.1:c.422_429del (LARP7)	NP_001357908.1:p.Ile141SerfsTer17
NM_001370980.1:c.422_429del (LARP7)	NP_001357909.1:p.Ile141SerfsTer17
NM_001370981.1:c.185_192del (LARP7)	NP_001357910.1:p.Ile62SerfsTer17
NM_001370982.1:c.185_192del (LARP7)	NP_001357911.1:p.Ile62SerfsTer17
NM_001267039.2:c.443_450del (LARP7)	NP_001253968.1:p.Ile148SerfsTer17
NM_015454.3:c.422_429del (LARP7)	NP_056269.1:p.Ile141SerfsTer17
NM_001267039.4:c.422_429del (LARP7)	NP_001253968.2:p.Ile141SerfsTer17