Canonical Allele Identifier: CA2701088075

Gene: CHN1

Linked Data

• dbSNP Id: rs2105333886

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878021_174878022insCCAGCATACAAAAAACA , CM000664.2:g.174878021_174878022insCCAGCATACAAAAAACA	GRCh38
NC_000002.11:g.175742749_175742750insCCAGCATACAAAAAACA , CM000664.1:g.175742749_175742750insCCAGCATACAAAAAACA	GRCh37
NC_000002.10:g.175450995_175450996insCCAGCATACAAAAAACA	NCBI36
NG_012642.1:g.132421_132422insTGTTTTTTGTATGCTGG
NG_012642.2:g.132421_132422insTGTTTTTTGTATGCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.367_368insTGTTTTTTGTATGCTGG MANE Select	ENSP00000386741.4:p.Thr123MetfsTer21
ENST00000425395.6:c.105-31065_105-31064insTGTTTTTTGTATGCTGG	ENSP00000405270.2:n.105-31065_105-31064in...
ENST00000444573.2:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000392603.2:p.Thr71MetfsTer21
ENST00000451799.2:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000416316.2:p.Thr71MetfsTer21
ENST00000469597.2:c.*15_*16insTGTTTTTTGTATGCTGG	ENSP00000498417.1:n.*15_*16insTGTTTTTTGTA...
ENST00000488080.6:n.115-2157_115-2156insTGTTTTTTGTATGCTGG
ENST00000650734.1:c.*267_*268insTGTTTTTTGTATGCTGG	ENSP00000498742.1:n.*267_*268insTGTTTTTTG...
ENST00000650770.1:c.*281_*282insTGTTTTTTGTATGCTGG	ENSP00000499036.1:n.*281_*282insTGTTTTTTG...
ENST00000651063.1:n.418_419insTGTTTTTTGTATGCTGG
ENST00000651246.1:c.-42_-41insTGTTTTTTGTATGCTGG	ENSP00000498484.1:n.-42_-41insTGTTTTTTGTA...
ENST00000651315.1:c.-42_-41insTGTTTTTTGTATGCTGG	ENSP00000498692.1:n.-42_-41insTGTTTTTTGTA...
ENST00000651373.1:c.-42_-41insTGTTTTTTGTATGCTGG	ENSP00000499174.1:n.-42_-41insTGTTTTTTGTA...
ENST00000651501.1:c.105-31065_105-31064insTGTTTTTTGTATGCTGG	ENSP00000498894.1:n.105-31065_105-31064in...
ENST00000651580.1:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000498631.1:p.Thr71MetfsTer21
ENST00000651599.1:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000498535.1:p.Thr71MetfsTer21
ENST00000651803.1:c.*281_*282insTGTTTTTTGTATGCTGG	ENSP00000499007.1:n.*281_*282insTGTTTTTTG...
ENST00000651971.1:c.*167_*168insTGTTTTTTGTATGCTGG	ENSP00000499035.1:n.*167_*168insTGTTTTTTG...
ENST00000652154.1:n.343_344insTGTTTTTTGTATGCTGG
ENST00000652208.1:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000498475.1:p.Thr71MetfsTer21
ENST00000652434.1:c.328_329insTGTTTTTTGTATGCTGG	ENSP00000498549.1:p.Thr110MetfsTer21
ENST00000652437.1:n.510_511insTGTTTTTTGTATGCTGG
ENST00000652674.1:c.-42_-41insTGTTTTTTGTATGCTGG	ENSP00000498599.1:n.-42_-41insTGTTTTTTGTA...
ENST00000652734.1:n.264_265insTGTTTTTTGTATGCTGG
ENST00000652756.1:c.211_212insTGTTTTTTGTATGCTGG	ENSP00000498281.1:p.Thr71MetfsTer21
ENST00000652768.1:n.259_260insTGTTTTTTGTATGCTGG
ENST00000409156.7:c.367_368insTGTTTTTTGTATGCTGG	ENSP00000386470.3:p.Thr123MetfsTer21
ENST00000409900.7:c.367_368insTGTTTTTTGTATGCTGG	ENSP00000386741.3:p.Thr123MetfsTer21
ENST00000425395.5:c.*101-31065_*101-31064insTGTTTTTTGTATGCTGG	ENSP00000405270.1:n.*101-31065_*101-31064...
ENST00000469597.1:n.472_473insTGTTTTTTGTATGCTGG
ENST00000488080.5:n.401-31065_401-31064insTGTTTTTTGTATGCTGG
ENST00000490654.1:n.342_343insTGTTTTTTGTATGCTGG
NM_001025201.3:c.367_368insTGTTTTTTGTATGCTGG	NP_001020372.2:p.Thr123MetfsTer21
NM_001822.5:c.367_368insTGTTTTTTGTATGCTGG	NP_001813.1:p.Thr123MetfsTer21
NR_038133.1:n.416-31065_416-31064insTGTTTTTTGTATGCTGG
NM_001025201.4:c.367_368insTGTTTTTTGTATGCTGG	NP_001020372.2:p.Thr123MetfsTer21
NM_001371513.1:c.367_368insTGTTTTTTGTATGCTGG	NP_001358442.1:p.Thr123MetfsTer21
NM_001371514.1:c.418_419insTGTTTTTTGTATGCTGG	NP_001358443.1:p.Thr140MetfsTer21
NM_001822.7:c.367_368insTGTTTTTTGTATGCTGG MANE Select	NP_001813.1:p.Thr123MetfsTer21
NR_038133.2:n.418-31065_418-31064insTGTTTTTTGTATGCTGG