Canonical Allele Identifier: CA1207913138

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857357_173857361delinsTCAAA , CM000663.2:g.173857357_173857361delinsTCAAA	GRCh38
NC_000001.10:g.173826495_173826499delinsTCAAA , CM000663.1:g.173826495_173826499delinsTCAAA	GRCh37
NC_000001.9:g.172093118_172093122delinsTCAAA	NCBI36
NG_016138.1:g.37699_37703delinsTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-161_*1330-157delinsTCAAA	ENSP00000497663.1:n.*1330-161_*1330-157delinsTCAAA
ENST00000647645.1:c.1688-161_1688-157delinsTCAAA	ENSP00000497450.1:n.1688-161_1688-157delinsTCAAA
ENST00000647730.1:c.*1441-161_*1441-157delinsTCAAA	ENSP00000497781.1:n.*1441-161_*1441-157delinsTCAAA
ENST00000647788.1:c.*895-161_*895-157delinsTCAAA	ENSP00000497769.1:n.*895-161_*895-157delinsTCAAA
ENST00000648271.1:c.*2056_*2060delinsTCAAA	ENSP00000497795.1:n.*2056_*2060delinsTCAAA
ENST00000648807.1:c.1598-161_1598-157delinsTCAAA	ENSP00000497472.1:n.1598-161_1598-157delinsTCAAA
ENST00000648960.1:c.1268-161_1268-157delinsTCAAA	ENSP00000497091.1:n.1268-161_1268-157delinsTCAAA
ENST00000649067.1:c.*593_*597delinsTCAAA	ENSP00000497052.1:n.*593_*597delinsTCAAA
ENST00000649689.2:c.1751-161_1751-157delinsTCAAA MANE Select	ENSP00000497569.1:n.1751-161_1751-157delinsTCAAA
ENST00000361951.4:c.1751-161_1751-157delinsTCAAA	ENSP00000355086.4:n.1751-161_1751-157delinsTCAAA
ENST00000471476.1:n.573-161_573-157delinsTCAAA
NM_018122.4:c.1751-161_1751-157delinsTCAAA	NP_060592.2:n.1751-161_1751-157delinsTCAAA
XM_006711427.2:c.1598-161_1598-157delinsTCAAA	XP_006711490.1:n.1598-161_1598-157delinsTCAAA
NM_001365212.1:c.1598-161_1598-157delinsTCAAA	NP_001352141.1:n.1598-161_1598-157delinsTCAAA
NM_018122.5:c.1751-161_1751-157delinsTCAAA MANE Select	NP_060592.2:n.1751-161_1751-157delinsTCAAA