Canonical Allele Identifier: CA554146409

Gene: LARP7 MIR302CHG

Linked Data

• dbSNP Id: rs1341605079
• gnomAD v2: 4-113568364-AAAAG-A
• gnomAD v4: 4-112647208-AAAAG-A
• MyVariant Identifiers: chr4:g.113568365_113568368del (hg19) ; chr4:g.112647209_112647212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112647212_112647215del , CM000666.2:g.112647212_112647215del	GRCh38
NC_000004.11:g.113568368_113568371del , CM000666.1:g.113568368_113568371del	GRCh37
NC_000004.10:g.113787817_113787820del	NCBI36
NG_032779.1:g.15249_15252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.660_663del (LARP7)	ENSP00000421541.2:p.Lys221ArgfsTer7
ENST00000505216.2:c.*419_*422del (LARP7)	ENSP00000424116.1:n.*419_*422del
ENST00000694891.1:c.657_660del (LARP7)	ENSP00000511571.1:p.Lys220ArgfsTer7
ENST00000694892.1:n.990_993del (LARP7)
ENST00000694894.1:c.660_663del (LARP7)	ENSP00000511572.1:p.Lys221ArgfsTer7
ENST00000694895.1:c.660_663del (LARP7)	ENSP00000511573.1:p.Lys221ArgfsTer7
ENST00000694896.1:c.660_663del (LARP7)	ENSP00000511574.1:p.Lys221ArgfsTer7
ENST00000694897.1:c.*59_*62del (LARP7)	ENSP00000511575.1:n.*59_*62del
ENST00000694898.1:c.660_663del (LARP7)	ENSP00000511576.1:p.Lys221ArgfsTer7
ENST00000694899.1:c.657_660del (LARP7)	ENSP00000511577.1:p.Lys220ArgfsTer7
ENST00000694900.1:c.660_663del (LARP7)	ENSP00000511578.1:p.Lys221ArgfsTer7
ENST00000694901.1:c.*419_*422del (LARP7)	ENSP00000511579.1:n.*419_*422del
ENST00000511529.2:c.657_660del (LARP7)	ENSP00000426376.2:p.Lys220ArgfsTer7
ENST00000512361.2:n.840_843del (LARP7)
ENST00000512589.6:c.*466_*469del (LARP7)	ENSP00000426709.1:n.*466_*469del
ENST00000684864.1:c.660_663del (LARP7)	ENSP00000509993.1:p.Lys221ArgfsTer7
ENST00000688617.1:n.934_937del (LARP7)
ENST00000689262.1:n.1811_1814del (LARP7)
ENST00000689844.1:c.660_663del (LARP7)	ENSP00000509899.1:p.Lys221ArgfsTer7
ENST00000690008.1:c.*419_*422del (LARP7)	ENSP00000508938.1:n.*419_*422del
ENST00000692075.1:n.896_899del (LARP7)
ENST00000692168.1:n.826_829del (LARP7)
ENST00000692416.1:c.423_426del (LARP7)	ENSP00000509527.1:p.Lys142ArgfsTer7
ENST00000693375.1:c.423_426del (LARP7)	ENSP00000508585.1:p.Lys142ArgfsTer7
ENST00000693442.1:c.660_663del (LARP7)	ENSP00000509975.1:p.Lys221ArgfsTer7
ENST00000344442.10:c.660_663del (LARP7) MANE Select	ENSP00000344950.5:p.Lys221ArgfsTer7
ENST00000651579.1:c.660_663del (LARP7)	ENSP00000499190.1:p.Lys221ArgfsTer7
ENST00000324052.10:c.660_663del (LARP7)	ENSP00000314311.6:p.Lys221ArgfsTer7
ENST00000344442.9:c.660_663del (LARP7)	ENSP00000344950.5:p.Lys221ArgfsTer7
ENST00000503316.1:n.152_155del (LARP7)
ENST00000505034.5:c.660_663del (LARP7)	ENSP00000421541.1:p.Lys221ArgfsTer7
ENST00000509061.5:c.681_684del (LARP7)	ENSP00000422626.1:p.Lys228ArgfsTer7
ENST00000509622.5:c.*419_*422del (LARP7)	ENSP00000422451.1:n.*419_*422del
ENST00000513553.5:c.31-507_31-504del (LARP7)	ENSP00000422013.1:n.31-507_31-504del
NM_001267039.1:c.681_684del (LARP7)	NP_001253968.1:p.Lys228ArgfsTer7
NM_015454.2:c.660_663del (LARP7)	NP_056269.1:p.Lys221ArgfsTer7
NM_016648.3:c.660_663del (LARP7)	NP_057732.2:p.Lys221ArgfsTer7
NR_049768.1:n.835_838del (LARP7)
NR_146092.1:n.148-244_148-241del (MIR302CHG)
NR_146093.1:n.103+203_103+206del (MIR302CHG)
NR_146094.1:n.51-244_51-241del (MIR302CHG)
XM_024454080.1:c.660_663del (LARP7)	XP_024309848.1:p.Lys221ArgfsTer7
XM_024454081.1:c.660_663del (LARP7)	XP_024309849.1:p.Lys221ArgfsTer7
XM_024454082.1:c.660_663del (LARP7)	XP_024309850.1:p.Lys221ArgfsTer7
XM_024454083.1:c.660_663del (LARP7)	XP_024309851.1:p.Lys221ArgfsTer7
XM_024454084.1:c.660_663del (LARP7)	XP_024309852.1:p.Lys221ArgfsTer7
XM_024454085.1:c.660_663del (LARP7)	XP_024309853.1:p.Lys221ArgfsTer7
XM_024454086.1:c.423_426del (LARP7)	XP_024309854.1:p.Lys142ArgfsTer7
XM_024454087.1:c.423_426del (LARP7)	XP_024309855.1:p.Lys142ArgfsTer7
XM_024454088.1:c.423_426del (LARP7)	XP_024309856.1:p.Lys142ArgfsTer7
XM_024454089.1:c.-22_-19del (LARP7)	XP_024309857.1:n.-22_-19del
NM_016648.4:c.660_663del (LARP7) MANE Select	NP_057732.2:p.Lys221ArgfsTer7
NM_001370974.1:c.660_663del (LARP7)	NP_001357903.1:p.Lys221ArgfsTer7
NM_001370975.1:c.660_663del (LARP7)	NP_001357904.1:p.Lys221ArgfsTer7
NM_001370976.1:c.657_660del (LARP7)	NP_001357905.1:p.Lys220ArgfsTer7
NM_001370977.1:c.657_660del (LARP7)	NP_001357906.1:p.Lys220ArgfsTer7
NM_001370978.1:c.660_663del (LARP7)	NP_001357907.1:p.Lys221ArgfsTer7
NM_001370979.1:c.657_660del (LARP7)	NP_001357908.1:p.Lys220ArgfsTer7
NM_001370980.1:c.657_660del (LARP7)	NP_001357909.1:p.Lys220ArgfsTer7
NM_001370981.1:c.423_426del (LARP7)	NP_001357910.1:p.Lys142ArgfsTer7
NM_001370982.1:c.423_426del (LARP7)	NP_001357911.1:p.Lys142ArgfsTer7
NM_001267039.2:c.681_684del (LARP7)	NP_001253968.1:p.Lys228ArgfsTer7
NM_015454.3:c.660_663del (LARP7)	NP_056269.1:p.Lys221ArgfsTer7
NM_001267039.4:c.660_663del (LARP7)	NP_001253968.2:p.Lys221ArgfsTer7