Canonical Allele Identifier: CA1624922687

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301927_44301930delinsCAGG , CM000668.2:g.44301927_44301930delinsCAGG	GRCh38
NC_000006.11:g.44269664_44269667delinsCAGG , CM000668.1:g.44269664_44269667delinsCAGG	GRCh37
NC_000006.10:g.44377642_44377645delinsCAGG	NCBI36
NG_031952.1:g.16397_16400delinsCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2598+130_2598+133delinsCCTG (AARS2) MANE Select	ENSP00000244571.4:n.2598+130_2598+133deli...
ENST00000244571.4:c.2598+130_2598+133delinsCCTG (AARS2)	ENSP00000244571.4:n.2598+130_2598+133deli...
ENST00000438774.2:c.577-5016_577-5013delinsCAGG (TMEM151B)	ENSP00000409337.2:n.577-5016_577-5013deli...
ENST00000505802.1:c.314-5016_314-5013delinsCAGG
NM_020745.3:c.2598+130_2598+133delinsCCTG (AARS2)	NP_065796.1:n.2598+130_2598+133delinsCCTG...
XM_005249245.2:c.2307+130_2307+133delinsCCTG (AARS2)	XP_005249302.1:n.2307+130_2307+133delinsC...
XM_011514764.1:c.2598+130_2598+133delinsCCTG (AARS2)	XP_011513066.1:n.2598+130_2598+133delinsC...
XR_241907.2:n.2523+130_2523+133delinsCCTG (AARS2)
XM_005249245.3:c.2307+130_2307+133delinsCCTG (AARS2)	XP_005249302.1:n.2307+130_2307+133delinsC...
XM_011514764.2:c.2598+130_2598+133delinsCCTG (AARS2)	XP_011513066.1:n.2598+130_2598+133delinsC...
XM_017011112.1:c.1308+130_1308+133delinsCCTG (AARS2)	XP_016866601.1:n.1308+130_1308+133delinsC...
NM_020745.4:c.2598+130_2598+133delinsCCTG (AARS2) MANE Select	NP_065796.2:n.2598+130_2598+133delinsCCTG...
NM_001318876.2:c.946-139963_946-139960delinsCAGG (POLR1C)	NP_001305805.1:n.946-139963_946-139960del...