Canonical Allele Identifier: CA1624922486

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301703_44301704delinsAC , CM000668.2:g.44301703_44301704delinsAC	GRCh38
NC_000006.11:g.44269440_44269441delinsAC , CM000668.1:g.44269440_44269441delinsAC	GRCh37
NC_000006.10:g.44377418_44377419delinsAC	NCBI36
NG_031952.1:g.16623_16624delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2599-240_2599-239delinsGT (AARS2) MANE Select	ENSP00000244571.4:n.2599-240_2599-239delinsGT
ENST00000244571.4:c.2599-240_2599-239delinsGT (AARS2)	ENSP00000244571.4:n.2599-240_2599-239delinsGT
ENST00000438774.2:c.577-5240_577-5239delinsAC (TMEM151B)	ENSP00000409337.2:n.577-5240_577-5239delinsAC
ENST00000505802.1:c.314-5240_314-5239delinsAC
NM_020745.3:c.2599-240_2599-239delinsGT (AARS2)	NP_065796.1:n.2599-240_2599-239delinsGT
XM_005249245.2:c.2308-240_2308-239delinsGT (AARS2)	XP_005249302.1:n.2308-240_2308-239delinsGT
XM_011514764.1:c.2599-240_2599-239delinsGT (AARS2)	XP_011513066.1:n.2599-240_2599-239delinsGT
XR_241907.2:n.2524-240_2524-239delinsGT (AARS2)
XM_005249245.3:c.2308-240_2308-239delinsGT (AARS2)	XP_005249302.1:n.2308-240_2308-239delinsGT
XM_011514764.2:c.2599-240_2599-239delinsGT (AARS2)	XP_011513066.1:n.2599-240_2599-239delinsGT
XM_017011112.1:c.1309-240_1309-239delinsGT (AARS2)	XP_016866601.1:n.1309-240_1309-239delinsGT
NM_020745.4:c.2599-240_2599-239delinsGT (AARS2) MANE Select	NP_065796.2:n.2599-240_2599-239delinsGT
NM_001318876.2:c.946-140187_946-140186delinsAC (POLR1C)	NP_001305805.1:n.946-140187_946-140186delinsAC