Canonical Allele Identifier: CA2678952972
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44301961-ACAGCCTCTGACTCACCCCCATGCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44301967_44301991del , CM000668.2:g.44301967_44301991del GRCh38
NC_000006.11:g.44269704_44269728del , CM000668.1:g.44269704_44269728del GRCh37
NC_000006.10:g.44377682_44377706del NCBI36
NG_031952.1:g.16341_16365del

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+74_2598+98del (AARS2) MANE Select ENSP00000244571.4:n.2598+74_2598+98del
ENST00000244571.4:c.2598+74_2598+98del (AARS2) ENSP00000244571.4:n.2598+74_2598+98del
ENST00000438774.2:c.577-4976_577-4952del (TMEM151B) ENSP00000409337.2:n.577-4976_577-4952del
ENST00000505802.1:c.314-4976_314-4952del
NM_020745.3:c.2598+74_2598+98del (AARS2) NP_065796.1:n.2598+74_2598+98del
XM_005249245.2:c.2307+74_2307+98del (AARS2) XP_005249302.1:n.2307+74_2307+98del
XM_011514764.1:c.2598+74_2598+98del (AARS2) XP_011513066.1:n.2598+74_2598+98del
XR_241907.2:n.2523+74_2523+98del (AARS2)
XM_005249245.3:c.2307+74_2307+98del (AARS2) XP_005249302.1:n.2307+74_2307+98del
XM_011514764.2:c.2598+74_2598+98del (AARS2) XP_011513066.1:n.2598+74_2598+98del
XM_017011112.1:c.1308+74_1308+98del (AARS2) XP_016866601.1:n.1308+74_1308+98del
NM_020745.4:c.2598+74_2598+98del (AARS2) MANE Select NP_065796.2:n.2598+74_2598+98del
NM_001318876.2:c.946-139923_946-139899del (POLR1C) NP_001305805.1:n.946-139923_946-139899del...
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