Canonical Allele Identifier: CA1624922749

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301975_44301976delinsAC , CM000668.2:g.44301975_44301976delinsAC	GRCh38
NC_000006.11:g.44269712_44269713delinsAC , CM000668.1:g.44269712_44269713delinsAC	GRCh37
NC_000006.10:g.44377690_44377691delinsAC	NCBI36
NG_031952.1:g.16351_16352delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2598+84_2598+85delinsGT (AARS2) MANE Select	ENSP00000244571.4:n.2598+84_2598+85delinsGT
ENST00000244571.4:c.2598+84_2598+85delinsGT (AARS2)	ENSP00000244571.4:n.2598+84_2598+85delinsGT
ENST00000438774.2:c.577-4968_577-4967delinsAC (TMEM151B)	ENSP00000409337.2:n.577-4968_577-4967delinsAC
ENST00000505802.1:c.314-4968_314-4967delinsAC
NM_020745.3:c.2598+84_2598+85delinsGT (AARS2)	NP_065796.1:n.2598+84_2598+85delinsGT
XM_005249245.2:c.2307+84_2307+85delinsGT (AARS2)	XP_005249302.1:n.2307+84_2307+85delinsGT
XM_011514764.1:c.2598+84_2598+85delinsGT (AARS2)	XP_011513066.1:n.2598+84_2598+85delinsGT
XR_241907.2:n.2523+84_2523+85delinsGT (AARS2)
XM_005249245.3:c.2307+84_2307+85delinsGT (AARS2)	XP_005249302.1:n.2307+84_2307+85delinsGT
XM_011514764.2:c.2598+84_2598+85delinsGT (AARS2)	XP_011513066.1:n.2598+84_2598+85delinsGT
XM_017011112.1:c.1308+84_1308+85delinsGT (AARS2)	XP_016866601.1:n.1308+84_1308+85delinsGT
NM_020745.4:c.2598+84_2598+85delinsGT (AARS2) MANE Select	NP_065796.2:n.2598+84_2598+85delinsGT
NM_001318876.2:c.946-139915_946-139914delinsAC (POLR1C)	NP_001305805.1:n.946-139915_946-139914delinsAC