Canonical Allele Identifier: CA2678953461
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44303173-AACCTGAGGTCAAGAGGGGACAGGCCCGTTAACTGCCAAAGGAGAAGGATAAAGCCTCCAGGTATGCCTGAAGGAGGCCCCCGATCTCCAGCAAAAGGGCTTCCCCAACTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303178_44303287del , CM000668.2:g.44303178_44303287del GRCh38
NC_000006.11:g.44270915_44271024del , CM000668.1:g.44270915_44271024del GRCh37
NC_000006.10:g.44378893_44379002del NCBI36
NG_031952.1:g.15044_15153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2145+3_2147del (AARS2)
ENST00000244571.4:c.2145+3_2147del (AARS2)
ENST00000438774.2:c.577-3765_577-3656del (TMEM151B) ENSP00000409337.2:n.577-3765_577-3656del
ENST00000505802.1:c.314-3765_314-3656del
NM_020745.3:c.2145+3_2147del (AARS2)
XM_005249245.2:c.1854+3_1856del (AARS2)
XM_011514764.1:c.2145+3_2147del (AARS2)
XR_241907.2:n.2180+3_2180+112del (AARS2)
XM_005249245.3:c.1854+3_1856del (AARS2)
XM_011514764.2:c.2145+3_2147del (AARS2)
XM_017011112.1:c.855+3_857del (AARS2)
NM_020745.4:c.2145+3_2147del (AARS2)
NM_001318876.2:c.946-138712_946-138603del (POLR1C) NP_001305805.1:n.946-138712_946-138603del
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