Canonical Allele Identifier: CA2578858576
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612059_30612061del , CM000669.2:g.30612059_30612061del GRCh38
NC_000007.13:g.30651675_30651677del , CM000669.1:g.30651675_30651677del GRCh37
NC_000007.12:g.30618200_30618202del NCBI36
NG_007942.1:g.22495_22497del , LRG_243:g.22495_22497del

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.882-37_882-35del MANE Select ENSP00000373918.3:n.882-37_882-35del
ENST00000444666.6:c.882-37_882-35del ENSP00000415447.2:n.882-37_882-35del
ENST00000470392.2:n.972-37_972-35del
ENST00000478124.6:n.945-37_945-35del
ENST00000485784.2:n.961-37_961-35del
ENST00000674616.1:c.*596-37_*596-35del ENSP00000502408.1:n.*596-37_*596-35del
ENST00000674643.1:c.882-37_882-35del ENSP00000501636.1:n.882-37_882-35del
ENST00000674734.1:n.1378-37_1378-35del
ENST00000674737.1:c.*220-37_*220-35del ENSP00000502464.1:n.*220-37_*220-35del
ENST00000674807.1:c.882-37_882-35del ENSP00000502814.1:n.882-37_882-35del
ENST00000674815.1:c.513-37_513-35del ENSP00000502799.1:n.513-37_513-35del
ENST00000674851.1:c.513-37_513-35del ENSP00000502451.1:n.513-37_513-35del
ENST00000674969.1:n.2755-37_2755-35del
ENST00000675051.1:c.681-37_681-35del ENSP00000502296.1:n.681-37_681-35del
ENST00000675529.1:c.*752-37_*752-35del ENSP00000501655.1:n.*752-37_*752-35del
ENST00000675587.1:n.898-37_898-35del
ENST00000675651.1:c.882-37_882-35del ENSP00000502513.1:n.882-37_882-35del
ENST00000675693.1:c.714-37_714-35del ENSP00000502174.1:n.714-37_714-35del
ENST00000675810.1:c.780-37_780-35del ENSP00000502743.1:n.780-37_780-35del
ENST00000675859.1:c.882-37_882-35del ENSP00000502033.1:n.882-37_882-35del
ENST00000675863.1:n.890-37_890-35del
ENST00000675886.1:n.6922-37_6922-35del
ENST00000676088.1:c.*824-37_*824-35del ENSP00000501884.1:n.*824-37_*824-35del
ENST00000676140.1:c.882-37_882-35del ENSP00000502571.1:n.882-37_882-35del
ENST00000676164.1:c.*333-37_*333-35del ENSP00000501986.1:n.*333-37_*333-35del
ENST00000676210.1:c.*171-37_*171-35del ENSP00000502373.1:n.*171-37_*171-35del
ENST00000676259.1:c.*314-37_*314-35del ENSP00000501980.1:n.*314-37_*314-35del
ENST00000676403.1:c.882-37_882-35del ENSP00000502681.1:n.882-37_882-35del
ENST00000389266.7:c.882-37_882-35del ENSP00000373918.3:n.882-37_882-35del
ENST00000478124.5:n.920-37_920-35del
NM_001316772.1:c.720-37_720-35del NP_001303701.1:n.720-37_720-35del
NM_002047.2:c.882-37_882-35del , LRG_243t1:c.882-37_882-35del NP_002038.2:n.882-37_882-35del
NM_002047.3:c.882-37_882-35del NP_002038.2:n.882-37_882-35del
XM_006715686.1:c.513-37_513-35del XP_006715749.1:n.513-37_513-35del
XM_006715686.2:c.513-37_513-35del XP_006715749.1:n.513-37_513-35del
NM_002047.4:c.882-37_882-35del MANE Select NP_002038.2:n.882-37_882-35del