Canonical Allele Identifier: CA543047984

Gene: QARS1

Linked Data

• ClinVar Variation Id: 452189
• ClinVar RCV Id: RCV000522052 ; RCV001372292
• dbSNP Id: rs1170759657
• gnomAD v2: 3-49142109-CCTT-C
• gnomAD v3: 3-49104676-CCTT-C
• gnomAD v4: 3-49104676-CCTT-C
• MyVariant Identifiers: chr3:g.49142110_49142112del (hg19) ; chr3:g.49104677_49104679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104679_49104681del , CM000665.2:g.49104679_49104681del	GRCh38
NC_000003.11:g.49142112_49142114del , CM000665.1:g.49142112_49142114del	GRCh37
NC_000003.10:g.49117116_49117118del	NCBI36
NG_042312.1:g.5451_5453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.55_57del MANE Select	ENSP00000307567.6:p.Lys19del
ENST00000306125.11:c.55_57del	ENSP00000307567.6:p.Lys19del
ENST00000414533.5:c.55_57del	ENSP00000390015.1:p.Lys19del
ENST00000417025.2:n.81_83del
ENST00000418549.3:c.55_57del	ENSP00000415247.1:p.Lys19del
ENST00000430182.5:c.55_57del	ENSP00000389823.1:p.Lys19del
ENST00000452739.5:c.55_57del	ENSP00000392850.2:p.Lys19del
ENST00000470619.6:n.74_76del
ENST00000479495.5:n.98-208_98-206del
ENST00000482261.7:n.131_133del
ENST00000482438.2:n.81_83del
ENST00000494767.2:c.55_57del	ENSP00000489170.1:p.Lys19del
ENST00000634359.1:n.198-208_198-206del
ENST00000634527.1:c.-318-208_-318-206del	ENSP00000489039.1:n.-318-208_-318-206del
ENST00000634602.1:c.55_57del	ENSP00000489082.1:p.Lys19del
ENST00000634609.1:n.80_82del
ENST00000634724.1:n.79_81del
ENST00000634802.1:c.55_57del	ENSP00000488917.1:p.Lys19del
ENST00000634953.1:n.82_84del
ENST00000635052.1:c.55_57del	ENSP00000489409.1:p.Lys19del
ENST00000635194.1:c.55_57del	ENSP00000488960.1:p.Lys19del
ENST00000635231.1:c.55_57del	ENSP00000489550.1:p.Lys19del
ENST00000635278.1:n.79_81del
ENST00000635443.1:c.55_57del	ENSP00000489154.1:p.Lys19del
ENST00000635494.1:c.55_57del	ENSP00000489331.1:p.Lys19del
ENST00000635501.1:n.445_447del
ENST00000635622.1:c.-409_-407del	ENSP00000489558.1:n.-409_-407del
NM_001272073.1:c.55_57del	NP_001259002.1:p.Lys19del
NM_005051.2:c.55_57del	NP_005042.1:p.Lys19del
NR_073590.1:n.451_453del
XM_011533973.1:c.109_111del	XP_011532275.1:p.Lys37del
XM_017006965.2:c.55_57del	XP_016862454.2:p.Lys19del
NM_005051.3:c.55_57del MANE Select	NP_005042.1:p.Lys19del
NM_001272073.2:c.55_57del	NP_001259002.1:p.Lys19del
NR_073590.2:n.79_81del