Canonical Allele Identifier: CA1207913166

Gene: DARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857443_173857445delinsCTT , CM000663.2:g.173857443_173857445delinsCTT	GRCh38
NC_000001.10:g.173826581_173826583delinsCTT , CM000663.1:g.173826581_173826583delinsCTT	GRCh37
NC_000001.9:g.172093204_172093206delinsCTT	NCBI36
NG_016138.1:g.37785_37787delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-75_*1330-73delinsCTT	ENSP00000497663.1:n.*1330-75_*1330-73delinsCTT
ENST00000647645.1:c.1688-75_1688-73delinsCTT	ENSP00000497450.1:n.1688-75_1688-73delinsCTT
ENST00000647730.1:c.*1441-75_*1441-73delinsCTT	ENSP00000497781.1:n.*1441-75_*1441-73delinsCTT
ENST00000647788.1:c.*895-75_*895-73delinsCTT	ENSP00000497769.1:n.*895-75_*895-73delinsCTT
ENST00000648271.1:c.*2142_*2144delinsCTT	ENSP00000497795.1:n.*2142_*2144delinsCTT
ENST00000648807.1:c.1598-75_1598-73delinsCTT	ENSP00000497472.1:n.1598-75_1598-73delinsCTT
ENST00000648960.1:c.1268-75_1268-73delinsCTT	ENSP00000497091.1:n.1268-75_1268-73delinsCTT
ENST00000649067.1:c.*679_*681delinsCTT	ENSP00000497052.1:n.*679_*681delinsCTT
ENST00000649689.2:c.1751-75_1751-73delinsCTT MANE Select	ENSP00000497569.1:n.1751-75_1751-73delinsCTT
ENST00000361951.4:c.1751-75_1751-73delinsCTT	ENSP00000355086.4:n.1751-75_1751-73delinsCTT
ENST00000471476.1:n.573-75_573-73delinsCTT
NM_018122.4:c.1751-75_1751-73delinsCTT	NP_060592.2:n.1751-75_1751-73delinsCTT
XM_006711427.2:c.1598-75_1598-73delinsCTT	XP_006711490.1:n.1598-75_1598-73delinsCTT
NM_001365212.1:c.1598-75_1598-73delinsCTT	NP_001352141.1:n.1598-75_1598-73delinsCTT
NM_018122.5:c.1751-75_1751-73delinsCTT MANE Select	NP_060592.2:n.1751-75_1751-73delinsCTT