Canonical Allele Identifier: CA3048999

Gene: LARP7

Linked Data

• dbSNP Id: rs761402045
• ExAC: 4:113567552 TGAC / T
• gnomAD v2: 4-113567552-TGAC-T
• MyVariant Identifiers: chr4:g.113567553_113567555del (hg19) ; chr4:g.112646397_112646399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646397_112646399del , CM000666.2:g.112646397_112646399del	GRCh38
NC_000004.11:g.113567553_113567555del , CM000666.1:g.113567553_113567555del	GRCh37
NC_000004.10:g.113787002_113787004del	NCBI36
NG_032779.1:g.14434_14436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.249_251del	ENSP00000421541.2:p.Leu83_Thr84delinsPhe
ENST00000505216.2:c.*8_*10del	ENSP00000424116.1:n.*8_*10del
ENST00000694891.1:c.249_251del	ENSP00000511571.1:p.Leu83_Thr84delinsPhe
ENST00000694892.1:n.253_255del
ENST00000694893.1:n.342_344del
ENST00000694894.1:c.249_251del	ENSP00000511572.1:p.Leu83_Thr84delinsPhe
ENST00000694895.1:c.249_251del	ENSP00000511573.1:p.Leu83_Thr84delinsPhe
ENST00000694896.1:c.249_251del	ENSP00000511574.1:p.Leu83_Thr84delinsPhe
ENST00000694897.1:c.249_251del	ENSP00000511575.1:p.Leu83_Thr84delinsPhe
ENST00000694898.1:c.249_251del	ENSP00000511576.1:p.Leu83_Thr84delinsPhe
ENST00000694899.1:c.249_251del	ENSP00000511577.1:p.Leu83_Thr84delinsPhe
ENST00000694900.1:c.249_251del	ENSP00000511578.1:p.Leu83_Thr84delinsPhe
ENST00000694901.1:c.*8_*10del	ENSP00000511579.1:n.*8_*10del
ENST00000694902.1:n.770_772del
ENST00000511529.2:c.249_251del	ENSP00000426376.2:p.Leu83_Thr84delinsPhe
ENST00000512361.2:n.358_360del
ENST00000512589.6:c.*55_*57del	ENSP00000426709.1:n.*55_*57del
ENST00000684864.1:c.249_251del	ENSP00000509993.1:p.Leu83_Thr84delinsPhe
ENST00000688617.1:n.523_525del
ENST00000689262.1:n.1400_1402del
ENST00000689844.1:c.249_251del	ENSP00000509899.1:p.Leu83_Thr84delinsPhe
ENST00000690008.1:c.*8_*10del	ENSP00000508938.1:n.*8_*10del
ENST00000692075.1:n.414_416del
ENST00000692168.1:n.337_339del
ENST00000692416.1:c.12_14del	ENSP00000509527.1:p.Leu4_Thr5delinsPhe
ENST00000693375.1:c.12_14del	ENSP00000508585.1:p.Leu4_Thr5delinsPhe
ENST00000693442.1:c.249_251del	ENSP00000509975.1:p.Leu83_Thr84delinsPhe
ENST00000344442.10:c.249_251del MANE Select	ENSP00000344950.5:p.Leu83_Thr84delinsPhe
ENST00000651579.1:c.249_251del	ENSP00000499190.1:p.Leu83_Thr84delinsPhe
ENST00000324052.10:c.249_251del	ENSP00000314311.6:p.Leu83_Thr84delinsPhe
ENST00000344442.9:c.249_251del	ENSP00000344950.5:p.Leu83_Thr84delinsPhe
ENST00000505034.5:c.249_251del	ENSP00000421541.1:p.Leu83_Thr84delinsPhe
ENST00000505216.1:c.*8_*10del	ENSP00000424116.1:n.*8_*10del
ENST00000507443.1:c.249_251del	ENSP00000421963.1:p.Leu83_Thr84delinsPhe
ENST00000508577.5:c.249_251del	ENSP00000426646.1:p.Leu83_Thr84delinsPhe
ENST00000509061.5:c.270_272del	ENSP00000422626.1:p.Leu90_Thr91delinsPhe
ENST00000509622.5:c.*8_*10del	ENSP00000422451.1:n.*8_*10del
ENST00000512589.5:c.*55_*57del	ENSP00000426709.1:n.*55_*57del
ENST00000513553.5:c.31-1322_31-1320del	ENSP00000422013.1:n.31-1322_31-1320del
NM_001267039.1:c.270_272del	NP_001253968.1:p.Leu90_Thr91delinsPhe
NM_015454.2:c.249_251del	NP_056269.1:p.Leu83_Thr84delinsPhe
NM_016648.3:c.249_251del	NP_057732.2:p.Leu83_Thr84delinsPhe
NR_049768.1:n.424_426del
XM_024454080.1:c.249_251del	XP_024309848.1:p.Leu83_Thr84delinsPhe
XM_024454081.1:c.249_251del	XP_024309849.1:p.Leu83_Thr84delinsPhe
XM_024454082.1:c.249_251del	XP_024309850.1:p.Leu83_Thr84delinsPhe
XM_024454083.1:c.249_251del	XP_024309851.1:p.Leu83_Thr84delinsPhe
XM_024454084.1:c.249_251del	XP_024309852.1:p.Leu83_Thr84delinsPhe
XM_024454085.1:c.249_251del	XP_024309853.1:p.Leu83_Thr84delinsPhe
XM_024454086.1:c.12_14del	XP_024309854.1:p.Leu4_Thr5delinsPhe
XM_024454087.1:c.12_14del	XP_024309855.1:p.Leu4_Thr5delinsPhe
XM_024454088.1:c.12_14del	XP_024309856.1:p.Leu4_Thr5delinsPhe
XM_024454089.1:c.-688_-686del	XP_024309857.1:n.-688_-686del
NM_016648.4:c.249_251del MANE Select	NP_057732.2:p.Leu83_Thr84delinsPhe
NM_001370974.1:c.249_251del	NP_001357903.1:p.Leu83_Thr84delinsPhe
NM_001370975.1:c.249_251del	NP_001357904.1:p.Leu83_Thr84delinsPhe
NM_001370976.1:c.249_251del	NP_001357905.1:p.Leu83_Thr84delinsPhe
NM_001370977.1:c.249_251del	NP_001357906.1:p.Leu83_Thr84delinsPhe
NM_001370978.1:c.249_251del	NP_001357907.1:p.Leu83_Thr84delinsPhe
NM_001370979.1:c.249_251del	NP_001357908.1:p.Leu83_Thr84delinsPhe
NM_001370980.1:c.249_251del	NP_001357909.1:p.Leu83_Thr84delinsPhe
NM_001370981.1:c.12_14del	NP_001357910.1:p.Leu4_Thr5delinsPhe
NM_001370982.1:c.12_14del	NP_001357911.1:p.Leu4_Thr5delinsPhe
NM_001267039.2:c.270_272del	NP_001253968.1:p.Leu90_Thr91delinsPhe
NM_015454.3:c.249_251del	NP_056269.1:p.Leu83_Thr84delinsPhe
NM_001267039.4:c.249_251del	NP_001253968.2:p.Leu83_Thr84delinsPhe