Canonical Allele Identifier: CA837514393

Gene: GARS1

Linked Data

• dbSNP Id: rs1464637996
• MyVariant Identifiers: chr7:g.30666278_30666280del (hg19) ; chr7:g.30626662_30626664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626666_30626668del , CM000669.2:g.30626666_30626668del	GRCh38
NC_000007.13:g.30666282_30666284del , CM000669.1:g.30666282_30666284del	GRCh37
NC_000007.12:g.30632807_30632809del	NCBI36
NG_007942.1:g.37102_37104del , LRG_243:g.37102_37104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+347_1699+349del MANE Select	ENSP00000373918.3:n.1699+347_1699+349del
ENST00000444666.6:c.1699+347_1699+349del	ENSP00000415447.2:n.1699+347_1699+349del
ENST00000470392.2:n.1789+347_1789+349del
ENST00000485784.2:n.1778+347_1778+349del
ENST00000674616.1:c.*1413+347_*1413+349del	ENSP00000502408.1:n.*1413+347_*1413+349del
ENST00000674643.1:c.*799+347_*799+349del	ENSP00000501636.1:n.*799+347_*799+349del
ENST00000674737.1:c.*1037+347_*1037+349del	ENSP00000502464.1:n.*1037+347_*1037+349del
ENST00000674807.1:c.1614-1894_1614-1892del	ENSP00000502814.1:n.1614-1894_1614-1892del
ENST00000674815.1:c.1330+347_1330+349del	ENSP00000502799.1:n.1330+347_1330+349del
ENST00000674851.1:c.1330+347_1330+349del	ENSP00000502451.1:n.1330+347_1330+349del
ENST00000674969.1:n.3572+347_3572+349del
ENST00000675051.1:c.1498+347_1498+349del	ENSP00000502296.1:n.1498+347_1498+349del
ENST00000675529.1:c.*1569+347_*1569+349del	ENSP00000501655.1:n.*1569+347_*1569+349del
ENST00000675587.1:n.2531+347_2531+349del
ENST00000675651.1:c.1699+347_1699+349del	ENSP00000502513.1:n.1699+347_1699+349del
ENST00000675693.1:c.1531+347_1531+349del	ENSP00000502174.1:n.1531+347_1531+349del
ENST00000675810.1:c.1597+347_1597+349del	ENSP00000502743.1:n.1597+347_1597+349del
ENST00000675859.1:c.1614-1894_1614-1892del	ENSP00000502033.1:n.1614-1894_1614-1892del
ENST00000675863.1:n.1707+347_1707+349del
ENST00000675886.1:n.7739+347_7739+349del
ENST00000676088.1:c.*1641+347_*1641+349del	ENSP00000501884.1:n.*1641+347_*1641+349del
ENST00000676140.1:c.*644+347_*644+349del	ENSP00000502571.1:n.*644+347_*644+349del
ENST00000676164.1:c.*1150+347_*1150+349del	ENSP00000501986.1:n.*1150+347_*1150+349del
ENST00000676210.1:c.*988+347_*988+349del	ENSP00000502373.1:n.*988+347_*988+349del
ENST00000676259.1:c.*1131+347_*1131+349del	ENSP00000501980.1:n.*1131+347_*1131+349del
ENST00000676403.1:c.1699+347_1699+349del	ENSP00000502681.1:n.1699+347_1699+349del
ENST00000389266.7:c.1699+347_1699+349del	ENSP00000373918.3:n.1699+347_1699+349del
ENST00000444666.5:c.220+347_220+349del	ENSP00000415447.1:n.220+347_220+349del
ENST00000470392.1:n.421+347_421+349del
NM_001316772.1:c.1537+347_1537+349del	NP_001303701.1:n.1537+347_1537+349del
NM_002047.2:c.1699+347_1699+349del , LRG_243t1:c.1699+347_1699+349del	NP_002038.2:n.1699+347_1699+349del
NM_002047.3:c.1699+347_1699+349del	NP_002038.2:n.1699+347_1699+349del
XM_006715686.1:c.1330+347_1330+349del	XP_006715749.1:n.1330+347_1330+349del
XM_006715686.2:c.1330+347_1330+349del	XP_006715749.1:n.1330+347_1330+349del
NM_002047.4:c.1699+347_1699+349del MANE Select	NP_002038.2:n.1699+347_1699+349del