Canonical Allele Identifier: CA2662026471

Gene: CHN1

Linked Data

• gnomAD v4: 2-174878032-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878033del , CM000664.2:g.174878033del	GRCh38
NC_000002.11:g.175742761del , CM000664.1:g.175742761del	GRCh37
NC_000002.10:g.175451007del	NCBI36
NG_012642.1:g.132410del
NG_012642.2:g.132410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.356del MANE Select	ENSP00000386741.4:p.Asp119ValfsTer3
ENST00000425395.6:c.105-31076del	ENSP00000405270.2:n.105-31076del
ENST00000444573.2:c.200del	ENSP00000392603.2:p.Asp67ValfsTer3
ENST00000451799.2:c.200del	ENSP00000416316.2:p.Asp67ValfsTer3
ENST00000469597.2:c.*4del	ENSP00000498417.1:n.*4del
ENST00000488080.6:n.115-2168del
ENST00000650734.1:c.*256del	ENSP00000498742.1:n.*256del
ENST00000650770.1:c.*270del	ENSP00000499036.1:n.*270del
ENST00000651063.1:n.407del
ENST00000651246.1:c.-53del	ENSP00000498484.1:n.-53del
ENST00000651315.1:c.-53del	ENSP00000498692.1:n.-53del
ENST00000651373.1:c.-53del	ENSP00000499174.1:n.-53del
ENST00000651501.1:c.105-31076del	ENSP00000498894.1:n.105-31076del
ENST00000651580.1:c.200del	ENSP00000498631.1:p.Asp67ValfsTer3
ENST00000651599.1:c.200del	ENSP00000498535.1:p.Asp67ValfsTer3
ENST00000651803.1:c.*270del	ENSP00000499007.1:n.*270del
ENST00000651971.1:c.*156del	ENSP00000499035.1:n.*156del
ENST00000652154.1:n.332del
ENST00000652208.1:c.200del	ENSP00000498475.1:p.Asp67ValfsTer3
ENST00000652434.1:c.317del	ENSP00000498549.1:p.Asp106ValfsTer3
ENST00000652437.1:n.499del
ENST00000652674.1:c.-53del	ENSP00000498599.1:n.-53del
ENST00000652734.1:n.253del
ENST00000652756.1:c.200del	ENSP00000498281.1:p.Asp67ValfsTer3
ENST00000652768.1:n.248del
ENST00000409156.7:c.356del	ENSP00000386470.3:p.Asp119ValfsTer3
ENST00000409900.7:c.356del	ENSP00000386741.3:p.Asp119ValfsTer3
ENST00000425395.5:c.*101-31076del	ENSP00000405270.1:n.*101-31076del
ENST00000469597.1:n.461del
ENST00000488080.5:n.401-31076del
ENST00000490654.1:n.331del
NM_001025201.3:c.356del	NP_001020372.2:p.Asp119ValfsTer3
NM_001822.5:c.356del	NP_001813.1:p.Asp119ValfsTer3
NR_038133.1:n.416-31076del
NM_001025201.4:c.356del	NP_001020372.2:p.Asp119ValfsTer3
NM_001371513.1:c.356del	NP_001358442.1:p.Asp119ValfsTer3
NM_001371514.1:c.407del	NP_001358443.1:p.Asp136ValfsTer3
NM_001822.7:c.356del MANE Select	NP_001813.1:p.Asp119ValfsTer3
NR_038133.2:n.418-31076del