Canonical Allele Identifier: CA2682251043

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626318-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626320del , CM000669.2:g.30626320del	GRCh38
NC_000007.13:g.30665936del , CM000669.1:g.30665936del	GRCh37
NC_000007.12:g.30632461del	NCBI36
NG_007942.1:g.36756del , LRG_243:g.36756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+1del
ENST00000444666.6:c.1699+1del
ENST00000470392.2:n.1789+1del
ENST00000485784.2:n.1778+1del
ENST00000674616.1:c.*1413+1del
ENST00000674643.1:c.*799+1del
ENST00000674737.1:c.*1037+1del
ENST00000674807.1:c.1614-2240del	ENSP00000502814.1:n.1614-2240del
ENST00000674815.1:c.1330+1del
ENST00000674851.1:c.1330+1del
ENST00000674969.1:n.3572+1del
ENST00000675051.1:c.1498+1del
ENST00000675529.1:c.*1569+1del
ENST00000675587.1:n.2531+1del
ENST00000675651.1:c.1699+1del
ENST00000675693.1:c.1531+1del
ENST00000675810.1:c.1597+1del
ENST00000675859.1:c.1614-2240del	ENSP00000502033.1:n.1614-2240del
ENST00000675863.1:n.1707+1del
ENST00000675886.1:n.7739+1del
ENST00000676088.1:c.*1641+1del
ENST00000676140.1:c.*644+1del
ENST00000676164.1:c.*1150+1del
ENST00000676210.1:c.*988+1del
ENST00000676259.1:c.*1131+1del
ENST00000676403.1:c.1699+1del
ENST00000389266.7:c.1699+1del
ENST00000444666.5:c.220+1del
ENST00000470392.1:n.421+1del
NM_001316772.1:c.1537+1del
NM_002047.2:c.1699+1del , LRG_243t1:c.1699+1del
NM_002047.3:c.1699+1del
XM_006715686.1:c.1330+1del
XM_006715686.2:c.1330+1del
NM_002047.4:c.1699+1del