Canonical Allele Identifier: CA554146411

Gene: LARP7 MIR302CHG

Linked Data

• ClinVar Variation Id: 986873
• ClinVar RCV Id: RCV001268017
• dbSNP Id: rs1164032252
• gnomAD v2: 4-113568404-CAA-C
• gnomAD v4: 4-112647248-CAA-C
• MyVariant Identifiers: chr4:g.113568405_113568406del (hg19) ; chr4:g.112647249_112647250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112647249_112647250del , CM000666.2:g.112647249_112647250del	GRCh38
NC_000004.11:g.113568405_113568406del , CM000666.1:g.113568405_113568406del	GRCh37
NC_000004.10:g.113787854_113787855del	NCBI36
NG_032779.1:g.15286_15287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.697_698del (LARP7)	ENSP00000421541.2:p.Asn233TyrfsTer17
ENST00000505216.2:c.*456_*457del (LARP7)	ENSP00000424116.1:n.*456_*457del
ENST00000694891.1:c.694_695del (LARP7)	ENSP00000511571.1:p.Asn232TyrfsTer17
ENST00000694894.1:c.697_698del (LARP7)	ENSP00000511572.1:p.Asn233TyrfsTer17
ENST00000694895.1:c.697_698del (LARP7)	ENSP00000511573.1:p.Asn233TyrfsTer17
ENST00000694896.1:c.697_698del (LARP7)	ENSP00000511574.1:p.Asn233TyrfsTer17
ENST00000694897.1:c.*96_*97del (LARP7)	ENSP00000511575.1:n.*96_*97del
ENST00000694898.1:c.697_698del (LARP7)	ENSP00000511576.1:p.Asn233TyrfsTer17
ENST00000694899.1:c.694_695del (LARP7)	ENSP00000511577.1:p.Asn232TyrfsTer17
ENST00000694900.1:c.697_698del (LARP7)	ENSP00000511578.1:p.Asn233TyrfsTer17
ENST00000694901.1:c.*456_*457del (LARP7)	ENSP00000511579.1:n.*456_*457del
ENST00000511529.2:c.694_695del (LARP7)	ENSP00000426376.2:p.Asn232TyrfsTer17
ENST00000512361.2:n.877_878del (LARP7)
ENST00000512589.6:c.*503_*504del (LARP7)	ENSP00000426709.1:n.*503_*504del
ENST00000684864.1:c.697_698del (LARP7)	ENSP00000509993.1:p.Asn233TyrfsTer17
ENST00000688617.1:n.971_972del (LARP7)
ENST00000689262.1:n.1848_1849del (LARP7)
ENST00000689844.1:c.697_698del (LARP7)	ENSP00000509899.1:p.Asn233TyrfsTer17
ENST00000690008.1:c.*456_*457del (LARP7)	ENSP00000508938.1:n.*456_*457del
ENST00000692075.1:n.933_934del (LARP7)
ENST00000692168.1:n.863_864del (LARP7)
ENST00000692416.1:c.460_461del (LARP7)	ENSP00000509527.1:p.Asn154TyrfsTer17
ENST00000693375.1:c.460_461del (LARP7)	ENSP00000508585.1:p.Asn154TyrfsTer17
ENST00000693442.1:c.697_698del (LARP7)	ENSP00000509975.1:p.Asn233TyrfsTer17
ENST00000344442.10:c.697_698del (LARP7) MANE Select	ENSP00000344950.5:p.Asn233TyrfsTer17
ENST00000651579.1:c.697_698del (LARP7)	ENSP00000499190.1:p.Asn233TyrfsTer17
ENST00000324052.10:c.697_698del (LARP7)	ENSP00000314311.6:p.Asn233TyrfsTer17
ENST00000344442.9:c.697_698del (LARP7)	ENSP00000344950.5:p.Asn233TyrfsTer17
ENST00000503316.1:n.189_190del (LARP7)
ENST00000505034.5:c.697_698del (LARP7)	ENSP00000421541.1:p.Asn233TyrfsTer17
ENST00000509061.5:c.718_719del (LARP7)	ENSP00000422626.1:p.Asn240TyrfsTer17
ENST00000509622.5:c.*456_*457del (LARP7)	ENSP00000422451.1:n.*456_*457del
ENST00000511529.1:c.39_40del (LARP7)
ENST00000513553.5:c.31-470_31-469del (LARP7)	ENSP00000422013.1:n.31-470_31-469del
NM_001267039.1:c.718_719del (LARP7)	NP_001253968.1:p.Asn240TyrfsTer17
NM_015454.2:c.697_698del (LARP7)	NP_056269.1:p.Asn233TyrfsTer17
NM_016648.3:c.697_698del (LARP7)	NP_057732.2:p.Asn233TyrfsTer17
NR_049768.1:n.872_873del (LARP7)
NR_146092.1:n.148-282_148-281del (MIR302CHG)
NR_146093.1:n.103+165_103+166del (MIR302CHG)
NR_146094.1:n.51-282_51-281del (MIR302CHG)
XM_024454080.1:c.697_698del (LARP7)	XP_024309848.1:p.Asn233TyrfsTer17
XM_024454081.1:c.697_698del (LARP7)	XP_024309849.1:p.Asn233TyrfsTer17
XM_024454082.1:c.697_698del (LARP7)	XP_024309850.1:p.Asn233TyrfsTer17
XM_024454083.1:c.697_698del (LARP7)	XP_024309851.1:p.Asn233TyrfsTer17
XM_024454084.1:c.697_698del (LARP7)	XP_024309852.1:p.Asn233TyrfsTer17
XM_024454085.1:c.697_698del (LARP7)	XP_024309853.1:p.Asn233TyrfsTer17
XM_024454086.1:c.460_461del (LARP7)	XP_024309854.1:p.Asn154TyrfsTer17
XM_024454087.1:c.460_461del (LARP7)	XP_024309855.1:p.Asn154TyrfsTer17
XM_024454088.1:c.460_461del (LARP7)	XP_024309856.1:p.Asn154TyrfsTer17
XM_024454089.1:c.16_17del (LARP7)	XP_024309857.1:p.Asn6TyrfsTer17
NM_016648.4:c.697_698del (LARP7) MANE Select	NP_057732.2:p.Asn233TyrfsTer17
NM_001370974.1:c.697_698del (LARP7)	NP_001357903.1:p.Asn233TyrfsTer17
NM_001370975.1:c.697_698del (LARP7)	NP_001357904.1:p.Asn233TyrfsTer17
NM_001370976.1:c.694_695del (LARP7)	NP_001357905.1:p.Asn232TyrfsTer17
NM_001370977.1:c.694_695del (LARP7)	NP_001357906.1:p.Asn232TyrfsTer17
NM_001370978.1:c.697_698del (LARP7)	NP_001357907.1:p.Asn233TyrfsTer17
NM_001370979.1:c.694_695del (LARP7)	NP_001357908.1:p.Asn232TyrfsTer17
NM_001370980.1:c.694_695del (LARP7)	NP_001357909.1:p.Asn232TyrfsTer17
NM_001370981.1:c.460_461del (LARP7)	NP_001357910.1:p.Asn154TyrfsTer17
NM_001370982.1:c.460_461del (LARP7)	NP_001357911.1:p.Asn154TyrfsTer17
NM_001267039.2:c.718_719del (LARP7)	NP_001253968.1:p.Asn240TyrfsTer17
NM_015454.3:c.697_698del (LARP7)	NP_056269.1:p.Asn233TyrfsTer17
NM_001267039.4:c.697_698del (LARP7)	NP_001253968.2:p.Asn233TyrfsTer17