Canonical Allele Identifier: CA837514376

Gene: GARS1

Linked Data

• dbSNP Id: rs1330859056
• gnomAD v3: 7-30626626-CAG-C
• gnomAD v4: 7-30626626-CAG-C
• MyVariant Identifiers: chr7:g.30666243_30666244del (hg19) ; chr7:g.30626627_30626628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626627_30626628del , CM000669.2:g.30626627_30626628del	GRCh38
NC_000007.13:g.30666243_30666244del , CM000669.1:g.30666243_30666244del	GRCh37
NC_000007.12:g.30632768_30632769del	NCBI36
NG_007942.1:g.37063_37064del , LRG_243:g.37063_37064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+308_1699+309del MANE Select	ENSP00000373918.3:n.1699+308_1699+309del
ENST00000444666.6:c.1699+308_1699+309del	ENSP00000415447.2:n.1699+308_1699+309del
ENST00000470392.2:n.1789+308_1789+309del
ENST00000485784.2:n.1778+308_1778+309del
ENST00000674616.1:c.*1413+308_*1413+309del	ENSP00000502408.1:n.*1413+308_*1413+309del
ENST00000674643.1:c.*799+308_*799+309del	ENSP00000501636.1:n.*799+308_*799+309del
ENST00000674737.1:c.*1037+308_*1037+309del	ENSP00000502464.1:n.*1037+308_*1037+309del
ENST00000674807.1:c.1614-1933_1614-1932del	ENSP00000502814.1:n.1614-1933_1614-1932del
ENST00000674815.1:c.1330+308_1330+309del	ENSP00000502799.1:n.1330+308_1330+309del
ENST00000674851.1:c.1330+308_1330+309del	ENSP00000502451.1:n.1330+308_1330+309del
ENST00000674969.1:n.3572+308_3572+309del
ENST00000675051.1:c.1498+308_1498+309del	ENSP00000502296.1:n.1498+308_1498+309del
ENST00000675529.1:c.*1569+308_*1569+309del	ENSP00000501655.1:n.*1569+308_*1569+309del
ENST00000675587.1:n.2531+308_2531+309del
ENST00000675651.1:c.1699+308_1699+309del	ENSP00000502513.1:n.1699+308_1699+309del
ENST00000675693.1:c.1531+308_1531+309del	ENSP00000502174.1:n.1531+308_1531+309del
ENST00000675810.1:c.1597+308_1597+309del	ENSP00000502743.1:n.1597+308_1597+309del
ENST00000675859.1:c.1614-1933_1614-1932del	ENSP00000502033.1:n.1614-1933_1614-1932del
ENST00000675863.1:n.1707+308_1707+309del
ENST00000675886.1:n.7739+308_7739+309del
ENST00000676088.1:c.*1641+308_*1641+309del	ENSP00000501884.1:n.*1641+308_*1641+309del
ENST00000676140.1:c.*644+308_*644+309del	ENSP00000502571.1:n.*644+308_*644+309del
ENST00000676164.1:c.*1150+308_*1150+309del	ENSP00000501986.1:n.*1150+308_*1150+309del
ENST00000676210.1:c.*988+308_*988+309del	ENSP00000502373.1:n.*988+308_*988+309del
ENST00000676259.1:c.*1131+308_*1131+309del	ENSP00000501980.1:n.*1131+308_*1131+309del
ENST00000676403.1:c.1699+308_1699+309del	ENSP00000502681.1:n.1699+308_1699+309del
ENST00000389266.7:c.1699+308_1699+309del	ENSP00000373918.3:n.1699+308_1699+309del
ENST00000444666.5:c.220+308_220+309del	ENSP00000415447.1:n.220+308_220+309del
ENST00000470392.1:n.421+308_421+309del
NM_001316772.1:c.1537+308_1537+309del	NP_001303701.1:n.1537+308_1537+309del
NM_002047.2:c.1699+308_1699+309del , LRG_243t1:c.1699+308_1699+309del	NP_002038.2:n.1699+308_1699+309del
NM_002047.3:c.1699+308_1699+309del	NP_002038.2:n.1699+308_1699+309del
XM_006715686.1:c.1330+308_1330+309del	XP_006715749.1:n.1330+308_1330+309del
XM_006715686.2:c.1330+308_1330+309del	XP_006715749.1:n.1330+308_1330+309del
NM_002047.4:c.1699+308_1699+309del MANE Select	NP_002038.2:n.1699+308_1699+309del