Canonical Allele Identifier: CA573760106

Gene: GARS1

Linked Data

• gnomAD v2: 7-30634676-CCCG-C
• gnomAD v4: 7-30595060-CCCG-C
• COSMIC: COSM5872581
• MyVariant Identifiers: chr7:g.30634677_30634679del (hg19) ; chr7:g.30595061_30595063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595069_30595071del , CM000669.2:g.30595069_30595071del	GRCh38
NC_000007.13:g.30634685_30634687del , CM000669.1:g.30634685_30634687del	GRCh37
NC_000007.12:g.30601210_30601212del	NCBI36
NG_007942.1:g.5505_5507del , LRG_243:g.5505_5507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.148_150del MANE Select	ENSP00000373918.3:p.Ala50del
ENST00000444666.6:c.148_150del	ENSP00000415447.2:p.Ala50del
ENST00000454308.6:c.148_150del	ENSP00000392677.2:p.Ala50del
ENST00000470392.2:n.238_240del
ENST00000478124.6:n.211_213del
ENST00000485784.2:n.227_229del
ENST00000674616.1:c.148_150del	ENSP00000502408.1:p.Ala50del
ENST00000674643.1:c.148_150del	ENSP00000501636.1:p.Ala50del
ENST00000674737.1:c.148_150del	ENSP00000502464.1:p.Ala50del
ENST00000674807.1:c.148_150del	ENSP00000502814.1:p.Ala50del
ENST00000674815.1:c.-148+117_-148+119del	ENSP00000502799.1:n.-148+117_-148+119del
ENST00000674851.1:c.-183-39_-183-37del	ENSP00000502451.1:n.-183-39_-183-37del
ENST00000674969.1:n.188_190del
ENST00000675051.1:c.22-3727_22-3725del	ENSP00000502296.1:n.22-3727_22-3725del
ENST00000675529.1:c.148_150del	ENSP00000501655.1:p.Ala50del
ENST00000675587.1:n.164_166del
ENST00000675651.1:c.148_150del	ENSP00000502513.1:p.Ala50del
ENST00000675693.1:c.19-39_19-37del	ENSP00000502174.1:n.19-39_19-37del
ENST00000675810.1:c.148_150del	ENSP00000502743.1:p.Ala50del
ENST00000675859.1:c.148_150del	ENSP00000502033.1:p.Ala50del
ENST00000675863.1:n.156_158del
ENST00000675886.1:n.176_178del
ENST00000676088.1:c.148_150del	ENSP00000501884.1:p.Ala50del
ENST00000676140.1:c.148_150del	ENSP00000502571.1:p.Ala50del
ENST00000676164.1:c.148_150del	ENSP00000501986.1:p.Ala50del
ENST00000676210.1:c.148_150del	ENSP00000502373.1:p.Ala50del
ENST00000676259.1:c.148_150del	ENSP00000501980.1:p.Ala50del
ENST00000676403.1:c.148_150del	ENSP00000502681.1:p.Ala50del
ENST00000389266.7:c.148_150del	ENSP00000373918.3:p.Ala50del
ENST00000454308.5:c.148_150del	ENSP00000392677.1:p.Ala50del
ENST00000478124.5:n.186_188del
ENST00000627489.1:c.148_150del	ENSP00000485931.1:p.Ala50del
NM_001316772.1:c.-15_-13del	NP_001303701.1:n.-15_-13del
NM_002047.2:c.148_150del , LRG_243t1:c.148_150del	NP_002038.2:p.Ala50del
NM_002047.3:c.148_150del	NP_002038.2:p.Ala50del
XM_006715686.2:c.-332_-330del	XP_006715749.1:n.-332_-330del
NM_002047.4:c.148_150del MANE Select	NP_002038.2:p.Ala50del