Canonical Allele Identifier: CA554146474

Gene: LARP7

Linked Data

• ClinVar Variation Id: 2996235
• ClinVar RCV Id: RCV003856386
• dbSNP Id: rs1351698030
• gnomAD v2: 4-113567570-T-TA
• gnomAD v3: 4-112646414-T-TA
• gnomAD v4: 4-112646414-T-TA
• MyVariant Identifiers: chr4:g.113567570_113567571insA (hg19) ; chr4:g.112646414_112646415insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646416dup , CM000666.2:g.112646416dup	GRCh38
NC_000004.11:g.113567572dup , CM000666.1:g.113567572dup	GRCh37
NC_000004.10:g.113787021dup	NCBI36
NG_032779.1:g.14453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.268dup	ENSP00000421541.2:p.Ile90AsnfsTer14
ENST00000505216.2:c.*27dup	ENSP00000424116.1:n.*27dup
ENST00000694891.1:c.268dup	ENSP00000511571.1:p.Ile90AsnfsTer14
ENST00000694892.1:n.272dup
ENST00000694893.1:n.361dup
ENST00000694894.1:c.268dup	ENSP00000511572.1:p.Ile90AsnfsTer14
ENST00000694895.1:c.268dup	ENSP00000511573.1:p.Ile90AsnfsTer14
ENST00000694896.1:c.268dup	ENSP00000511574.1:p.Ile90AsnfsTer14
ENST00000694897.1:c.268dup	ENSP00000511575.1:p.Ile90AsnfsTer14
ENST00000694898.1:c.268dup	ENSP00000511576.1:p.Ile90AsnfsTer14
ENST00000694899.1:c.268dup	ENSP00000511577.1:p.Ile90AsnfsTer14
ENST00000694900.1:c.268dup	ENSP00000511578.1:p.Ile90AsnfsTer14
ENST00000694901.1:c.*27dup	ENSP00000511579.1:n.*27dup
ENST00000694902.1:n.789dup
ENST00000511529.2:c.268dup	ENSP00000426376.2:p.Ile90AsnfsTer14
ENST00000512361.2:n.377dup
ENST00000512589.6:c.*74dup	ENSP00000426709.1:n.*74dup
ENST00000684864.1:c.268dup	ENSP00000509993.1:p.Ile90AsnfsTer14
ENST00000688617.1:n.542dup
ENST00000689262.1:n.1419dup
ENST00000689844.1:c.268dup	ENSP00000509899.1:p.Ile90AsnfsTer14
ENST00000690008.1:c.*27dup	ENSP00000508938.1:n.*27dup
ENST00000692075.1:n.433dup
ENST00000692168.1:n.356dup
ENST00000692416.1:c.31dup	ENSP00000509527.1:p.Ile11AsnfsTer14
ENST00000693375.1:c.31dup	ENSP00000508585.1:p.Ile11AsnfsTer14
ENST00000693442.1:c.268dup	ENSP00000509975.1:p.Ile90AsnfsTer14
ENST00000344442.10:c.268dup MANE Select	ENSP00000344950.5:p.Ile90AsnfsTer14
ENST00000651579.1:c.268dup	ENSP00000499190.1:p.Ile90AsnfsTer14
ENST00000324052.10:c.268dup	ENSP00000314311.6:p.Ile90AsnfsTer14
ENST00000344442.9:c.268dup	ENSP00000344950.5:p.Ile90AsnfsTer14
ENST00000505034.5:c.268dup	ENSP00000421541.1:p.Ile90AsnfsTer14
ENST00000505216.1:c.*27dup	ENSP00000424116.1:n.*27dup
ENST00000507443.1:c.268dup	ENSP00000421963.1:p.Ile90AsnfsTer14
ENST00000508577.5:c.268dup	ENSP00000426646.1:p.Ile90AsnfsTer14
ENST00000509061.5:c.289dup	ENSP00000422626.1:p.Ile97AsnfsTer14
ENST00000509622.5:c.*27dup	ENSP00000422451.1:n.*27dup
ENST00000512589.5:c.*74dup	ENSP00000426709.1:n.*74dup
ENST00000513553.5:c.31-1303dup	ENSP00000422013.1:n.31-1303dup
NM_001267039.1:c.289dup	NP_001253968.1:p.Ile97AsnfsTer14
NM_015454.2:c.268dup	NP_056269.1:p.Ile90AsnfsTer14
NM_016648.3:c.268dup	NP_057732.2:p.Ile90AsnfsTer14
NR_049768.1:n.443dup
XM_024454080.1:c.268dup	XP_024309848.1:p.Ile90AsnfsTer14
XM_024454081.1:c.268dup	XP_024309849.1:p.Ile90AsnfsTer14
XM_024454082.1:c.268dup	XP_024309850.1:p.Ile90AsnfsTer14
XM_024454083.1:c.268dup	XP_024309851.1:p.Ile90AsnfsTer14
XM_024454084.1:c.268dup	XP_024309852.1:p.Ile90AsnfsTer14
XM_024454085.1:c.268dup	XP_024309853.1:p.Ile90AsnfsTer14
XM_024454086.1:c.31dup	XP_024309854.1:p.Ile11AsnfsTer14
XM_024454087.1:c.31dup	XP_024309855.1:p.Ile11AsnfsTer14
XM_024454088.1:c.31dup	XP_024309856.1:p.Ile11AsnfsTer14
XM_024454089.1:c.-669dup	XP_024309857.1:n.-669dup
NM_016648.4:c.268dup MANE Select	NP_057732.2:p.Ile90AsnfsTer14
NM_001370974.1:c.268dup	NP_001357903.1:p.Ile90AsnfsTer14
NM_001370975.1:c.268dup	NP_001357904.1:p.Ile90AsnfsTer14
NM_001370976.1:c.268dup	NP_001357905.1:p.Ile90AsnfsTer14
NM_001370977.1:c.268dup	NP_001357906.1:p.Ile90AsnfsTer14
NM_001370978.1:c.268dup	NP_001357907.1:p.Ile90AsnfsTer14
NM_001370979.1:c.268dup	NP_001357908.1:p.Ile90AsnfsTer14
NM_001370980.1:c.268dup	NP_001357909.1:p.Ile90AsnfsTer14
NM_001370981.1:c.31dup	NP_001357910.1:p.Ile11AsnfsTer14
NM_001370982.1:c.31dup	NP_001357911.1:p.Ile11AsnfsTer14
NM_001267039.2:c.289dup	NP_001253968.1:p.Ile97AsnfsTer14
NM_015454.3:c.268dup	NP_056269.1:p.Ile90AsnfsTer14
NM_001267039.4:c.268dup	NP_001253968.2:p.Ile90AsnfsTer14