Canonical Allele Identifier: CA1624922512

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301724_44301731delinsAAAGGAGG , CM000668.2:g.44301724_44301731delinsAAAGGAGG	GRCh38
NC_000006.11:g.44269461_44269468delinsAAAGGAGG , CM000668.1:g.44269461_44269468delinsAAAGGAGG	GRCh37
NC_000006.10:g.44377439_44377446delinsAAAGGAGG	NCBI36
NG_031952.1:g.16596_16603delinsCCTCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2599-267_2599-260delinsCCTCCTTT (AARS2) MANE Select	ENSP00000244571.4:n.2599-267_2599-260delinsCCTCCTTT
ENST00000244571.4:c.2599-267_2599-260delinsCCTCCTTT (AARS2)	ENSP00000244571.4:n.2599-267_2599-260delinsCCTCCTTT
ENST00000438774.2:c.577-5219_577-5212delinsAAAGGAGG (TMEM151B)	ENSP00000409337.2:n.577-5219_577-5212delinsAAAGGAGG
ENST00000505802.1:c.314-5219_314-5212delinsAAAGGAGG
NM_020745.3:c.2599-267_2599-260delinsCCTCCTTT (AARS2)	NP_065796.1:n.2599-267_2599-260delinsCCTCCTTT
XM_005249245.2:c.2308-267_2308-260delinsCCTCCTTT (AARS2)	XP_005249302.1:n.2308-267_2308-260delinsCCTCCTTT
XM_011514764.1:c.2599-267_2599-260delinsCCTCCTTT (AARS2)	XP_011513066.1:n.2599-267_2599-260delinsCCTCCTTT
XR_241907.2:n.2524-267_2524-260delinsCCTCCTTT (AARS2)
XM_005249245.3:c.2308-267_2308-260delinsCCTCCTTT (AARS2)	XP_005249302.1:n.2308-267_2308-260delinsCCTCCTTT
XM_011514764.2:c.2599-267_2599-260delinsCCTCCTTT (AARS2)	XP_011513066.1:n.2599-267_2599-260delinsCCTCCTTT
XM_017011112.1:c.1309-267_1309-260delinsCCTCCTTT (AARS2)	XP_016866601.1:n.1309-267_1309-260delinsCCTCCTTT
NM_020745.4:c.2599-267_2599-260delinsCCTCCTTT (AARS2) MANE Select	NP_065796.2:n.2599-267_2599-260delinsCCTCCTTT
NM_001318876.2:c.946-140166_946-140159delinsAAAGGAGG (POLR1C)	NP_001305805.1:n.946-140166_946-140159delinsAAAGGAGG