Canonical Allele Identifier: CA1290876656
Community Standard Title: NM_001349.4(DARS1):c.1231-191_1231-190delinsCA
Gene: DARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135911683_135911684delinsTG , CM000664.2:g.135911683_135911684delinsTG GRCh38
NC_000002.11:g.136669253_136669254delinsTG , CM000664.1:g.136669253_136669254delinsTG GRCh37
NC_000002.10:g.136385723_136385724delinsTG NCBI36
NG_034149.1:g.79001_79002delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_001349.4:c.1231-191_1231-190delinsCA MANE Select NP_001340.2:n.1231-191_1231-190delinsCA
ENST00000264161.9:c.1231-191_1231-190delinsCA MANE Select ENSP00000264161.4:n.1231-191_1231-190delinsCA
NM_001293312.1:c.931-191_931-190delinsCA NP_001280241.1:n.931-191_931-190delinsCA
NM_001349.3:c.1231-191_1231-190delinsCA NP_001340.2:n.1231-191_1231-190delinsCA
ENST00000264161.8:c.1231-191_1231-190delinsCA ENSP00000264161.4:n.1231-191_1231-190delinsCA
ENST00000422708.3:c.292-191_292-190delinsCA ENSP00000387508.1:n.292-191_292-190delinsCA
ENST00000489964.5:n.480-191_480-190delinsCA
ENST00000491481.1:n.75-191_75-190delinsCA