Canonical Allele Identifier: CA1036800422
Gene: DARS1 HGNC NCBI

Linked Data

gnomAD v3: 2-135907262-GA-G
gnomAD v4: 2-135907262-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135907263del , CM000664.2:g.135907263del GRCh38
NC_000002.11:g.136664833del , CM000664.1:g.136664833del GRCh37
NC_000002.10:g.136381303del NCBI36
NG_034149.1:g.83422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264161.9:c.*53del MANE Select ENSP00000264161.4:n.*53del
ENST00000264161.8:c.*53del ENSP00000264161.4:n.*53del
ENST00000422708.3:c.620del ENSP00000387508.1:n.620del
ENST00000478212.5:n.453del
ENST00000489964.5:n.808del
NM_001293312.1:c.*53del NP_001280241.1:n.*53del
NM_001349.3:c.*53del NP_001340.2:n.*53del
NM_001349.4:c.*53del MANE Select NP_001340.2:n.*53del
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