Canonical Allele Identifier: CA837514123

Gene: GARS1

Linked Data

• dbSNP Id: rs1315636263
• MyVariant Identifiers: chr7:g.30665892_30665893del (hg19) ; chr7:g.30626276_30626277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626278_30626279del , CM000669.2:g.30626278_30626279del	GRCh38
NC_000007.13:g.30665894_30665895del , CM000669.1:g.30665894_30665895del	GRCh37
NC_000007.12:g.30632419_30632420del	NCBI36
NG_007942.1:g.36714_36715del , LRG_243:g.36714_36715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1658_1659del MANE Select	ENSP00000373918.3:p.Lys553ArgfsTer23
ENST00000444666.6:c.1658_1659del	ENSP00000415447.2:p.Lys553ArgfsTer14
ENST00000470392.2:n.1748_1749del
ENST00000485784.2:n.1737_1738del
ENST00000674616.1:c.*1372_*1373del	ENSP00000502408.1:n.*1372_*1373del
ENST00000674643.1:c.*758_*759del	ENSP00000501636.1:n.*758_*759del
ENST00000674737.1:c.*996_*997del	ENSP00000502464.1:n.*996_*997del
ENST00000674807.1:c.1614-2282_1614-2281del	ENSP00000502814.1:n.1614-2282_1614-2281del
ENST00000674815.1:c.1289_1290del	ENSP00000502799.1:p.Lys430ArgfsTer23
ENST00000674851.1:c.1289_1290del	ENSP00000502451.1:p.Lys430ArgfsTer23
ENST00000674969.1:n.3531_3532del
ENST00000675051.1:c.1457_1458del	ENSP00000502296.1:p.Lys486ArgfsTer23
ENST00000675529.1:c.*1528_*1529del	ENSP00000501655.1:n.*1528_*1529del
ENST00000675587.1:n.2490_2491del
ENST00000675651.1:c.1658_1659del	ENSP00000502513.1:p.Lys553ArgfsTer23
ENST00000675693.1:c.1490_1491del	ENSP00000502174.1:p.Lys497ArgfsTer23
ENST00000675810.1:c.1556_1557del	ENSP00000502743.1:p.Lys519ArgfsTer23
ENST00000675859.1:c.1614-2282_1614-2281del	ENSP00000502033.1:n.1614-2282_1614-2281del
ENST00000675863.1:n.1666_1667del
ENST00000675886.1:n.7698_7699del
ENST00000676088.1:c.*1600_*1601del	ENSP00000501884.1:n.*1600_*1601del
ENST00000676140.1:c.*603_*604del	ENSP00000502571.1:n.*603_*604del
ENST00000676164.1:c.*1109_*1110del	ENSP00000501986.1:n.*1109_*1110del
ENST00000676210.1:c.*947_*948del	ENSP00000502373.1:n.*947_*948del
ENST00000676259.1:c.*1090_*1091del	ENSP00000501980.1:n.*1090_*1091del
ENST00000676403.1:c.1658_1659del	ENSP00000502681.1:p.Lys553ArgfsTer23
ENST00000389266.7:c.1658_1659del	ENSP00000373918.3:p.Lys553ArgfsTer23
ENST00000444666.5:c.179_180del	ENSP00000415447.1:p.Lys60ArgfsTer14
ENST00000470392.1:n.380_381del
NM_001316772.1:c.1496_1497del	NP_001303701.1:p.Lys499ArgfsTer23
NM_002047.2:c.1658_1659del , LRG_243t1:c.1658_1659del	NP_002038.2:p.Lys553ArgfsTer23
NM_002047.3:c.1658_1659del	NP_002038.2:p.Lys553ArgfsTer23
XM_006715686.1:c.1289_1290del	XP_006715749.1:p.Lys430ArgfsTer23
XM_006715686.2:c.1289_1290del	XP_006715749.1:p.Lys430ArgfsTer23
NM_002047.4:c.1658_1659del MANE Select	NP_002038.2:p.Lys553ArgfsTer23