Canonical Allele Identifier: CA2682251954

Gene: GARS1

Linked Data

• gnomAD v4: 7-30631281-CTGCTTCTCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30631285_30631295del , CM000669.2:g.30631285_30631295del	GRCh38
NC_000007.13:g.30670901_30670911del , CM000669.1:g.30670901_30670911del	GRCh37
NC_000007.12:g.30637426_30637436del	NCBI36
NG_007942.1:g.41721_41731del , LRG_243:g.41721_41731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1810-163_1810-153del MANE Select	ENSP00000373918.3:n.1810-163_1810-153del
ENST00000444666.6:c.*231-163_*231-153del	ENSP00000415447.2:n.*231-163_*231-153del
ENST00000465748.2:n.1291-163_1291-153del
ENST00000470392.2:n.4515_4525del
ENST00000485784.2:n.4504_4514del
ENST00000496643.2:n.2742_2752del
ENST00000674616.1:c.*1524-163_*1524-153del	ENSP00000502408.1:n.*1524-163_*1524-153del
ENST00000674643.1:c.*910-163_*910-153del	ENSP00000501636.1:n.*910-163_*910-153del
ENST00000674737.1:c.*1148-163_*1148-153del	ENSP00000502464.1:n.*1148-163_*1148-153del
ENST00000674807.1:c.*83-163_*83-153del	ENSP00000502814.1:n.*83-163_*83-153del
ENST00000674815.1:c.1441-163_1441-153del	ENSP00000502799.1:n.1441-163_1441-153del
ENST00000674851.1:c.1441-163_1441-153del	ENSP00000502451.1:n.1441-163_1441-153del
ENST00000674969.1:n.3683-163_3683-153del
ENST00000675051.1:c.1609-163_1609-153del	ENSP00000502296.1:n.1609-163_1609-153del
ENST00000675529.1:c.*1680-163_*1680-153del	ENSP00000501655.1:n.*1680-163_*1680-153del
ENST00000675587.1:n.2642-163_2642-153del
ENST00000675651.1:c.1810-163_1810-153del	ENSP00000502513.1:n.1810-163_1810-153del
ENST00000675693.1:c.1642-163_1642-153del	ENSP00000502174.1:n.1642-163_1642-153del
ENST00000675810.1:c.1708-163_1708-153del	ENSP00000502743.1:n.1708-163_1708-153del
ENST00000675859.1:c.*83-962_*83-952del	ENSP00000502033.1:n.*83-962_*83-952del
ENST00000675863.1:n.1818-163_1818-153del
ENST00000675886.1:n.7850-163_7850-153del
ENST00000676088.1:c.*1752-163_*1752-153del	ENSP00000501884.1:n.*1752-163_*1752-153del
ENST00000676140.1:c.*755-163_*755-153del	ENSP00000502571.1:n.*755-163_*755-153del
ENST00000676164.1:c.*1261-163_*1261-153del	ENSP00000501986.1:n.*1261-163_*1261-153del
ENST00000676210.1:c.*1099-163_*1099-153del	ENSP00000502373.1:n.*1099-163_*1099-153del
ENST00000676259.1:c.*1242-163_*1242-153del	ENSP00000501980.1:n.*1242-163_*1242-153del
ENST00000676403.1:c.1810-962_1810-952del	ENSP00000502681.1:n.1810-962_1810-952del
ENST00000389266.7:c.1810-163_1810-153del	ENSP00000373918.3:n.1810-163_1810-153del
ENST00000444666.5:c.465-163_465-153del	ENSP00000415447.1:n.465-163_465-153del
ENST00000465748.1:n.181-163_181-153del
ENST00000485784.1:n.137_147del
NM_001316772.1:c.1648-163_1648-153del	NP_001303701.1:n.1648-163_1648-153del
NM_002047.2:c.1810-163_1810-153del , LRG_243t1:c.1810-163_1810-153del	NP_002038.2:n.1810-163_1810-153del
NM_002047.3:c.1810-163_1810-153del	NP_002038.2:n.1810-163_1810-153del
XM_006715686.1:c.1441-163_1441-153del	XP_006715749.1:n.1441-163_1441-153del
XM_006715686.2:c.1441-163_1441-153del	XP_006715749.1:n.1441-163_1441-153del
NM_002047.4:c.1810-163_1810-153del MANE Select	NP_002038.2:n.1810-163_1810-153del