Canonical Allele Identifier: CA2551508976

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303212del , CM000668.2:g.44303212del GRCh38
NC_000006.11:g.44270949del , CM000668.1:g.44270949del GRCh37
NC_000006.10:g.44378927del NCBI36
NG_031952.1:g.15117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2146-35del (AARS2) MANE Select ENSP00000244571.4:n.2146-35del
ENST00000244571.4:c.2146-35del (AARS2) ENSP00000244571.4:n.2146-35del
ENST00000438774.2:c.577-3731del (TMEM151B) ENSP00000409337.2:n.577-3731del
ENST00000505802.1:c.314-3731del
NM_020745.3:c.2146-35del (AARS2) NP_065796.1:n.2146-35del
XM_005249245.2:c.1855-35del (AARS2) XP_005249302.1:n.1855-35del
XM_011514764.1:c.2146-35del (AARS2) XP_011513066.1:n.2146-35del
XR_241907.2:n.2180+76del (AARS2)
XM_005249245.3:c.1855-35del (AARS2) XP_005249302.1:n.1855-35del
XM_011514764.2:c.2146-35del (AARS2) XP_011513066.1:n.2146-35del
XM_017011112.1:c.856-35del (AARS2) XP_016866601.1:n.856-35del
NM_020745.4:c.2146-35del (AARS2) MANE Select NP_065796.2:n.2146-35del
NM_001318876.2:c.946-138678del (POLR1C) NP_001305805.1:n.946-138678del