Canonical Allele Identifier: CA2682249215

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609521-ATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609523_30609525del , CM000669.2:g.30609523_30609525del	GRCh38
NC_000007.13:g.30649139_30649141del , CM000669.1:g.30649139_30649141del	GRCh37
NC_000007.12:g.30615664_30615666del	NCBI36
NG_007942.1:g.19959_19961del , LRG_243:g.19959_19961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.736-62_736-60del MANE Select	ENSP00000373918.3:n.736-62_736-60del
ENST00000444666.6:c.736-62_736-60del	ENSP00000415447.2:n.736-62_736-60del
ENST00000470392.2:n.826-62_826-60del
ENST00000478124.6:n.799-62_799-60del
ENST00000485784.2:n.815-62_815-60del
ENST00000674616.1:c.*450-62_*450-60del	ENSP00000502408.1:n.*450-62_*450-60del
ENST00000674643.1:c.736-62_736-60del	ENSP00000501636.1:n.736-62_736-60del
ENST00000674734.1:n.1232-62_1232-60del
ENST00000674737.1:c.*74-62_*74-60del	ENSP00000502464.1:n.*74-62_*74-60del
ENST00000674807.1:c.736-62_736-60del	ENSP00000502814.1:n.736-62_736-60del
ENST00000674815.1:c.367-62_367-60del	ENSP00000502799.1:n.367-62_367-60del
ENST00000674851.1:c.367-62_367-60del	ENSP00000502451.1:n.367-62_367-60del
ENST00000674969.1:n.2609-62_2609-60del
ENST00000675051.1:c.535-62_535-60del	ENSP00000502296.1:n.535-62_535-60del
ENST00000675529.1:c.*606-62_*606-60del	ENSP00000501655.1:n.*606-62_*606-60del
ENST00000675587.1:n.752-62_752-60del
ENST00000675651.1:c.736-62_736-60del	ENSP00000502513.1:n.736-62_736-60del
ENST00000675693.1:c.568-62_568-60del	ENSP00000502174.1:n.568-62_568-60del
ENST00000675810.1:c.634-62_634-60del	ENSP00000502743.1:n.634-62_634-60del
ENST00000675859.1:c.736-62_736-60del	ENSP00000502033.1:n.736-62_736-60del
ENST00000675863.1:n.744-62_744-60del
ENST00000675886.1:n.6714_6716del
ENST00000676088.1:c.*678-62_*678-60del	ENSP00000501884.1:n.*678-62_*678-60del
ENST00000676140.1:c.736-62_736-60del	ENSP00000502571.1:n.736-62_736-60del
ENST00000676164.1:c.*187-62_*187-60del	ENSP00000501986.1:n.*187-62_*187-60del
ENST00000676210.1:c.*25-62_*25-60del	ENSP00000502373.1:n.*25-62_*25-60del
ENST00000676259.1:c.*168-62_*168-60del	ENSP00000501980.1:n.*168-62_*168-60del
ENST00000676403.1:c.736-62_736-60del	ENSP00000502681.1:n.736-62_736-60del
ENST00000389266.7:c.736-62_736-60del	ENSP00000373918.3:n.736-62_736-60del
ENST00000478124.5:n.774-62_774-60del
NM_001316772.1:c.574-62_574-60del	NP_001303701.1:n.574-62_574-60del
NM_002047.2:c.736-62_736-60del , LRG_243t1:c.736-62_736-60del	NP_002038.2:n.736-62_736-60del
NM_002047.3:c.736-62_736-60del	NP_002038.2:n.736-62_736-60del
XM_006715686.1:c.367-62_367-60del	XP_006715749.1:n.367-62_367-60del
XM_006715686.2:c.367-62_367-60del	XP_006715749.1:n.367-62_367-60del
NM_002047.4:c.736-62_736-60del MANE Select	NP_002038.2:n.736-62_736-60del