Canonical Allele Identifier: CA2578633093
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44300516del , CM000668.2:g.44300516del GRCh38
NC_000006.11:g.44268253del , CM000668.1:g.44268253del GRCh37
NC_000006.10:g.44376231del NCBI36
NG_031952.1:g.17813del

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.*33del (AARS2) MANE Select ENSP00000244571.4:n.*33del
ENST00000244571.4:c.*33del (AARS2) ENSP00000244571.4:n.*33del
ENST00000438774.2:c.577-6427del (TMEM151B) ENSP00000409337.2:n.577-6427del
ENST00000505802.1:c.314-6427del
NM_020745.3:c.*33del (AARS2) NP_065796.1:n.*33del
XM_005249245.2:c.*33del (AARS2) XP_005249302.1:n.*33del
XM_011514764.1:c.2793+642del (AARS2) XP_011513066.1:n.2793+642del
XR_241907.2:n.2916del (AARS2)
XM_005249245.3:c.*33del (AARS2) XP_005249302.1:n.*33del
XM_011514764.2:c.2793+642del (AARS2) XP_011513066.1:n.2793+642del
XM_017011112.1:c.*33del (AARS2) XP_016866601.1:n.*33del
NM_020745.4:c.*33del (AARS2) MANE Select NP_065796.2:n.*33del
NM_001318876.2:c.946-141374del (POLR1C) NP_001305805.1:n.946-141374del
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