Canonical Allele Identifier: CA2678953029

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302060del , CM000668.2:g.44302060del GRCh38
NC_000006.11:g.44269797del , CM000668.1:g.44269797del GRCh37
NC_000006.10:g.44377775del NCBI36
NG_031952.1:g.16268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2598+1del (AARS2)
ENST00000244571.4:c.2598+1del (AARS2)
ENST00000438774.2:c.577-4883del (TMEM151B) ENSP00000409337.2:n.577-4883del
ENST00000505802.1:c.314-4883del
NM_020745.3:c.2598+1del (AARS2)
XM_005249245.2:c.2307+1del (AARS2)
XM_011514764.1:c.2598+1del (AARS2)
XR_241907.2:n.2523+1del (AARS2)
XM_005249245.3:c.2307+1del (AARS2)
XM_011514764.2:c.2598+1del (AARS2)
XM_017011112.1:c.1308+1del (AARS2)
NM_020745.4:c.2598+1del (AARS2)
NM_001318876.2:c.946-139830del (POLR1C) NP_001305805.1:n.946-139830del