Canonical Allele Identifier: CA2682249767

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612359-TTGTTTTCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612360_30612369del , CM000669.2:g.30612360_30612369del	GRCh38
NC_000007.13:g.30651976_30651985del , CM000669.1:g.30651976_30651985del	GRCh37
NC_000007.12:g.30618501_30618510del	NCBI36
NG_007942.1:g.22796_22805del , LRG_243:g.22796_22805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+115_1031+124del MANE Select	ENSP00000373918.3:n.1031+115_1031+124del
ENST00000444666.6:c.1031+115_1031+124del	ENSP00000415447.2:n.1031+115_1031+124del
ENST00000470392.2:n.1121+115_1121+124del
ENST00000478124.6:n.1094+115_1094+124del
ENST00000485784.2:n.1110+115_1110+124del
ENST00000674616.1:c.*745+115_*745+124del	ENSP00000502408.1:n.*745+115_*745+124del
ENST00000674643.1:c.1031+115_1031+124del	ENSP00000501636.1:n.1031+115_1031+124del
ENST00000674734.1:n.1527+115_1527+124del
ENST00000674737.1:c.*369+115_*369+124del	ENSP00000502464.1:n.*369+115_*369+124del
ENST00000674807.1:c.1031+115_1031+124del	ENSP00000502814.1:n.1031+115_1031+124del
ENST00000674815.1:c.662+115_662+124del	ENSP00000502799.1:n.662+115_662+124del
ENST00000674851.1:c.662+115_662+124del	ENSP00000502451.1:n.662+115_662+124del
ENST00000674969.1:n.2904+115_2904+124del
ENST00000675051.1:c.830+115_830+124del	ENSP00000502296.1:n.830+115_830+124del
ENST00000675529.1:c.*901+115_*901+124del	ENSP00000501655.1:n.*901+115_*901+124del
ENST00000675587.1:n.1047+115_1047+124del
ENST00000675651.1:c.1031+115_1031+124del	ENSP00000502513.1:n.1031+115_1031+124del
ENST00000675693.1:c.863+115_863+124del	ENSP00000502174.1:n.863+115_863+124del
ENST00000675810.1:c.929+115_929+124del	ENSP00000502743.1:n.929+115_929+124del
ENST00000675859.1:c.1031+115_1031+124del	ENSP00000502033.1:n.1031+115_1031+124del
ENST00000675863.1:n.1039+115_1039+124del
ENST00000675886.1:n.7071+115_7071+124del
ENST00000676088.1:c.*973+115_*973+124del	ENSP00000501884.1:n.*973+115_*973+124del
ENST00000676140.1:c.1031+115_1031+124del	ENSP00000502571.1:n.1031+115_1031+124del
ENST00000676164.1:c.*482+115_*482+124del	ENSP00000501986.1:n.*482+115_*482+124del
ENST00000676210.1:c.*320+115_*320+124del	ENSP00000502373.1:n.*320+115_*320+124del
ENST00000676259.1:c.*463+115_*463+124del	ENSP00000501980.1:n.*463+115_*463+124del
ENST00000676403.1:c.1031+115_1031+124del	ENSP00000502681.1:n.1031+115_1031+124del
ENST00000389266.7:c.1031+115_1031+124del	ENSP00000373918.3:n.1031+115_1031+124del
ENST00000478124.5:n.1069+115_1069+124del
NM_001316772.1:c.869+115_869+124del	NP_001303701.1:n.869+115_869+124del
NM_002047.2:c.1031+115_1031+124del , LRG_243t1:c.1031+115_1031+124del	NP_002038.2:n.1031+115_1031+124del
NM_002047.3:c.1031+115_1031+124del	NP_002038.2:n.1031+115_1031+124del
XM_006715686.1:c.662+115_662+124del	XP_006715749.1:n.662+115_662+124del
XM_006715686.2:c.662+115_662+124del	XP_006715749.1:n.662+115_662+124del
NM_002047.4:c.1031+115_1031+124del MANE Select	NP_002038.2:n.1031+115_1031+124del