Canonical Allele Identifier: CA2753246124
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824538_174824539insACA , CM000664.2:g.174824538_174824539insACA GRCh38
NC_000002.11:g.175689266_175689267insACA , CM000664.1:g.175689266_175689267insACA GRCh37
NC_000002.10:g.175397512_175397513insACA NCBI36
NG_012642.1:g.185904_185905insTGT
NG_012642.2:g.185904_185905insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.253-21_253-20insTGT ENSP00000295497.7:n.253-21_253-20insTGT
ENST00000444394.7:c.253-21_253-20insTGT ENSP00000411911.2:n.253-21_253-20insTGT
ENST00000295497.12:c.253-21_253-20insTGT ENSP00000295497.7:n.253-21_253-20insTGT
ENST00000409089.7:c.-48-21_-48-20insTGT ENSP00000386322.3:n.-48-21_-48-20insTGT
ENST00000409900.9:c.628-21_628-20insTGT MANE Select ENSP00000386741.4:n.628-21_628-20insTGT
ENST00000413882.6:c.82-21_82-20insTGT ENSP00000410496.2:n.82-21_82-20insTGT
ENST00000425395.6:c.*75-21_*75-20insTGT ENSP00000405270.2:n.*75-21_*75-20insTGT
ENST00000443238.6:c.106-21_106-20insTGT ENSP00000409798.2:n.106-21_106-20insTGT
ENST00000444394.6:c.253-21_253-20insTGT ENSP00000411911.2:n.253-21_253-20insTGT
ENST00000444573.2:c.472-21_472-20insTGT ENSP00000392603.2:n.472-21_472-20insTGT
ENST00000451799.2:c.472-21_472-20insTGT ENSP00000416316.2:n.472-21_472-20insTGT
ENST00000469597.2:c.*276-21_*276-20insTGT ENSP00000498417.1:n.*276-21_*276-20insTGT
ENST00000488080.6:n.271-21_271-20insTGT
ENST00000650731.1:c.-48-21_-48-20insTGT ENSP00000499146.1:n.-48-21_-48-20insTGT
ENST00000650734.1:c.*528-21_*528-20insTGT ENSP00000498742.1:n.*528-21_*528-20insTGT
ENST00000650770.1:c.*542-21_*542-20insTGT ENSP00000499036.1:n.*542-21_*542-20insTGT
ENST00000650938.1:c.152-21_152-20insTGT
ENST00000651063.1:n.679-21_679-20insTGT
ENST00000651246.1:c.220-21_220-20insTGT ENSP00000498484.1:n.220-21_220-20insTGT
ENST00000651315.1:c.220-21_220-20insTGT ENSP00000498692.1:n.220-21_220-20insTGT
ENST00000651373.1:c.142-21_142-20insTGT ENSP00000499174.1:n.142-21_142-20insTGT
ENST00000651501.1:c.*75-21_*75-20insTGT ENSP00000498894.1:n.*75-21_*75-20insTGT
ENST00000651580.1:c.*207-21_*207-20insTGT ENSP00000498631.1:n.*207-21_*207-20insTGT
ENST00000651599.1:c.*112-21_*112-20insTGT ENSP00000498535.1:n.*112-21_*112-20insTGT
ENST00000651717.1:c.253-12057_253-12056insTGT ENSP00000499124.1:n.253-12057_253-12056insTGT
ENST00000651803.1:c.*620-21_*620-20insTGT ENSP00000499007.1:n.*620-21_*620-20insTGT
ENST00000651971.1:c.*428-21_*428-20insTGT ENSP00000499035.1:n.*428-21_*428-20insTGT
ENST00000652036.1:c.253-21_253-20insTGT ENSP00000499139.1:n.253-21_253-20insTGT
ENST00000652154.1:n.526-21_526-20insTGT
ENST00000652208.1:c.472-21_472-20insTGT ENSP00000498475.1:n.472-21_472-20insTGT
ENST00000652434.1:c.589-21_589-20insTGT ENSP00000498549.1:n.589-21_589-20insTGT
ENST00000652437.1:n.771-21_771-20insTGT
ENST00000652674.1:c.*112-21_*112-20insTGT ENSP00000498599.1:n.*112-21_*112-20insTGT
ENST00000652734.1:n.525-21_525-20insTGT
ENST00000652756.1:c.472-21_472-20insTGT ENSP00000498281.1:n.472-21_472-20insTGT
ENST00000652768.1:n.520-21_520-20insTGT
ENST00000295497.11:c.253-21_253-20insTGT ENSP00000295497.7:n.253-21_253-20insTGT
ENST00000409089.6:c.-48-21_-48-20insTGT ENSP00000386322.2:n.-48-21_-48-20insTGT
ENST00000409156.7:c.550-21_550-20insTGT ENSP00000386470.3:n.550-21_550-20insTGT
ENST00000409597.5:c.76-21_76-20insTGT ENSP00000386469.1:n.76-21_76-20insTGT
ENST00000409900.7:c.628-21_628-20insTGT ENSP00000386741.3:n.628-21_628-20insTGT
ENST00000413882.5:c.82-21_82-20insTGT ENSP00000410496.1:n.82-21_82-20insTGT
ENST00000425395.5:c.*179-21_*179-20insTGT ENSP00000405270.1:n.*179-21_*179-20insTGT
ENST00000443238.5:c.106-21_106-20insTGT ENSP00000409798.1:n.106-21_106-20insTGT
ENST00000444394.5:c.-48-21_-48-20insTGT ENSP00000411911.1:n.-48-21_-48-20insTGT
ENST00000444573.1:c.253-21_253-20insTGT ENSP00000392603.1:n.253-21_253-20insTGT
ENST00000485882.1:n.87-21_87-20insTGT
ENST00000488080.5:n.479-21_479-20insTGT
NM_001025201.3:c.550-21_550-20insTGT NP_001020372.2:n.550-21_550-20insTGT
NM_001206602.1:c.253-21_253-20insTGT NP_001193531.1:n.253-21_253-20insTGT
NM_001822.5:c.628-21_628-20insTGT NP_001813.1:n.628-21_628-20insTGT
NR_038133.1:n.494-21_494-20insTGT
NM_001025201.4:c.550-21_550-20insTGT NP_001020372.2:n.550-21_550-20insTGT
NM_001206602.2:c.253-21_253-20insTGT NP_001193531.1:n.253-21_253-20insTGT
NM_001371513.1:c.628-21_628-20insTGT NP_001358442.1:n.628-21_628-20insTGT
NM_001371514.1:c.679-21_679-20insTGT NP_001358443.1:n.679-21_679-20insTGT
NM_001822.7:c.628-21_628-20insTGT MANE Select NP_001813.1:n.628-21_628-20insTGT
NR_038133.2:n.496-21_496-20insTGT