Canonical Allele Identifier: CA2678953009
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44302002-CTCAGTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302004_44302009del , CM000668.2:g.44302004_44302009del GRCh38
NC_000006.11:g.44269741_44269746del , CM000668.1:g.44269741_44269746del GRCh37
NC_000006.10:g.44377719_44377724del NCBI36
NG_031952.1:g.16319_16324del

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+52_2598+57del (AARS2) MANE Select ENSP00000244571.4:n.2598+52_2598+57del
ENST00000244571.4:c.2598+52_2598+57del (AARS2) ENSP00000244571.4:n.2598+52_2598+57del
ENST00000438774.2:c.577-4939_577-4934del (TMEM151B) ENSP00000409337.2:n.577-4939_577-4934del
ENST00000505802.1:c.314-4939_314-4934del
NM_020745.3:c.2598+52_2598+57del (AARS2) NP_065796.1:n.2598+52_2598+57del
XM_005249245.2:c.2307+52_2307+57del (AARS2) XP_005249302.1:n.2307+52_2307+57del
XM_011514764.1:c.2598+52_2598+57del (AARS2) XP_011513066.1:n.2598+52_2598+57del
XR_241907.2:n.2523+52_2523+57del (AARS2)
XM_005249245.3:c.2307+52_2307+57del (AARS2) XP_005249302.1:n.2307+52_2307+57del
XM_011514764.2:c.2598+52_2598+57del (AARS2) XP_011513066.1:n.2598+52_2598+57del
XM_017011112.1:c.1308+52_1308+57del (AARS2) XP_016866601.1:n.1308+52_1308+57del
NM_020745.4:c.2598+52_2598+57del (AARS2) MANE Select NP_065796.2:n.2598+52_2598+57del
NM_001318876.2:c.946-139886_946-139881del (POLR1C) NP_001305805.1:n.946-139886_946-139881del...
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