Canonical Allele Identifier: CA364336913

Linked Data

dbSNP Id: rs1426940261

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302443del , CM000668.2:g.44302443del GRCh38
NC_000006.11:g.44270180del , CM000668.1:g.44270180del GRCh37
NC_000006.10:g.44378158del NCBI36
NG_031952.1:g.15886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2437del (AARS2) MANE Select ENSP00000244571.4:p.Asp813MetfsTer6
ENST00000244571.4:c.2437del (AARS2) ENSP00000244571.4:p.Asp813MetfsTer6
ENST00000438774.2:c.577-4500del (TMEM151B) ENSP00000409337.2:n.577-4500del
ENST00000505802.1:c.314-4500del
NM_020745.3:c.2437del (AARS2) NP_065796.1:p.Asp813MetfsTer6
XM_005249245.2:c.2146del (AARS2) XP_005249302.1:p.Asp716MetfsTer6
XM_011514764.1:c.2437del (AARS2) XP_011513066.1:p.Asp813MetfsTer6
XR_241907.2:n.2362del (AARS2)
XM_005249245.3:c.2146del (AARS2) XP_005249302.1:p.Asp716MetfsTer6
XM_011514764.2:c.2437del (AARS2) XP_011513066.1:p.Asp813MetfsTer6
XM_017011112.1:c.1147del (AARS2) XP_016866601.1:p.Asp383MetfsTer6
NM_020745.4:c.2437del (AARS2) MANE Select NP_065796.2:p.Asp813MetfsTer6
NM_001318876.2:c.946-139447del (POLR1C) NP_001305805.1:n.946-139447del