Canonical Allele Identifier: CA1066840342

Gene: LARP7

Linked Data

• dbSNP Id: rs2048244304
• gnomAD v3: 4-112646447-TAGAGGTA-T
• gnomAD v4: 4-112646447-TAGAGGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646451_112646457del , CM000666.2:g.112646451_112646457del	GRCh38
NC_000004.11:g.113567607_113567613del , CM000666.1:g.113567607_113567613del	GRCh37
NC_000004.10:g.113787056_113787062del	NCBI36
NG_032779.1:g.14488_14494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.303_303+6del
ENST00000505216.2:c.*62_*62+6del
ENST00000694891.1:c.303_303+6del
ENST00000694892.1:n.307_313del
ENST00000694893.1:n.396_402del
ENST00000694894.1:c.303_303+6del
ENST00000694895.1:c.303_303+6del
ENST00000694896.1:c.303_303+6del
ENST00000694897.1:c.303_303+6del
ENST00000694898.1:c.303_303+6del
ENST00000694899.1:c.303_303+6del
ENST00000694900.1:c.303_303+6del
ENST00000694901.1:c.*62_*62+6del
ENST00000694902.1:n.824_824+6del
ENST00000511529.2:c.303_303+6del
ENST00000512361.2:n.412_412+6del
ENST00000512589.6:c.*109_*109+6del
ENST00000684864.1:c.303_303+6del
ENST00000688617.1:n.577_577+6del
ENST00000689262.1:n.1454_1454+6del
ENST00000689844.1:c.303_303+6del
ENST00000690008.1:c.*62_*62+6del
ENST00000692075.1:n.468_468+6del
ENST00000692168.1:n.391_391+6del
ENST00000692416.1:c.66_66+6del
ENST00000693375.1:c.66_66+6del
ENST00000693442.1:c.303_303+6del
ENST00000344442.10:c.303_303+6del
ENST00000651579.1:c.303_303+6del
ENST00000324052.10:c.303_303+6del
ENST00000344442.9:c.303_303+6del
ENST00000505034.5:c.303_303+6del
ENST00000505216.1:c.*62_*62+6del
ENST00000507443.1:c.303_303+6del
ENST00000508577.5:c.303_303+6del
ENST00000509061.5:c.324_324+6del
ENST00000509622.5:c.*62_*62+6del
ENST00000512589.5:c.*109_*109+6del
ENST00000513553.5:c.31-1268_31-1262del	ENSP00000422013.1:n.31-1268_31-1262del
NM_001267039.1:c.324_324+6del
NM_015454.2:c.303_303+6del
NM_016648.3:c.303_303+6del
NR_049768.1:n.478_478+6del
XM_024454080.1:c.303_303+6del
XM_024454081.1:c.303_303+6del
XM_024454082.1:c.303_303+6del
XM_024454083.1:c.303_303+6del
XM_024454084.1:c.303_303+6del
XM_024454085.1:c.303_303+6del
XM_024454086.1:c.66_66+6del
XM_024454087.1:c.66_66+6del
XM_024454088.1:c.66_66+6del
XM_024454089.1:c.-634_-628del	XP_024309857.1:n.-634_-628del
NM_016648.4:c.303_303+6del
NM_001370974.1:c.303_303+6del
NM_001370975.1:c.303_303+6del
NM_001370976.1:c.303_303+6del
NM_001370977.1:c.303_303+6del
NM_001370978.1:c.303_303+6del
NM_001370979.1:c.303_303+6del
NM_001370980.1:c.303_303+6del
NM_001370981.1:c.66_66+6del
NM_001370982.1:c.66_66+6del
NM_001267039.2:c.324_324+6del
NM_015454.3:c.303_303+6del
NM_001267039.4:c.303_303+6del