Canonical Allele Identifier: CA1036800428

Gene: DARS1

Linked Data

• dbSNP Id: rs1680805788
• gnomAD v3: 2-135907263-A-ATTTTTTTTTTTTTTT
• gnomAD v4: 2-135907263-A-ATTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135907263_135907264insTTTTTTTTTTTTTTT , CM000664.2:g.135907263_135907264insTTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.136664833_136664834insTTTTTTTTTTTTTTT , CM000664.1:g.136664833_136664834insTTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.136381303_136381304insTTTTTTTTTTTTTTT	NCBI36
NG_034149.1:g.83421_83422insAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264161.9:c.*52_*53insAAAAAAAAAAAAAAA MANE Select	ENSP00000264161.4:n.*52_*53insAAAAAAAAAAAAAAA
ENST00000264161.8:c.*52_*53insAAAAAAAAAAAAAAA	ENSP00000264161.4:n.*52_*53insAAAAAAAAAAAAAAA
ENST00000422708.3:c.619_620insAAAAAAAAAAAAAAA	ENSP00000387508.1:n.619_620insAAAAAAAAAAAAAAA
ENST00000478212.5:n.452_453insAAAAAAAAAAAAAAA
ENST00000489964.5:n.807_808insAAAAAAAAAAAAAAA
NM_001293312.1:c.*52_*53insAAAAAAAAAAAAAAA	NP_001280241.1:n.*52_*53insAAAAAAAAAAAAAAA
NM_001349.3:c.*52_*53insAAAAAAAAAAAAAAA	NP_001340.2:n.*52_*53insAAAAAAAAAAAAAAA
NM_001349.4:c.*52_*53insAAAAAAAAAAAAAAA MANE Select	NP_001340.2:n.*52_*53insAAAAAAAAAAAAAAA