Canonical Allele Identifier: CA2577164178

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824500-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824503del , CM000664.2:g.174824503del	GRCh38
NC_000002.11:g.175689231del , CM000664.1:g.175689231del	GRCh37
NC_000002.10:g.175397477del	NCBI36
NG_012642.1:g.185942del
NG_012642.2:g.185942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.270del	ENSP00000295497.7:p.Pro91HisfsTer19
ENST00000444394.7:c.270del	ENSP00000411911.2:p.Pro91HisfsTer19
ENST00000295497.12:c.270del	ENSP00000295497.7:p.Pro91HisfsTer19
ENST00000409089.7:c.-31del	ENSP00000386322.3:n.-31del
ENST00000409900.9:c.645del MANE Select	ENSP00000386741.4:p.Pro216HisfsTer19
ENST00000413882.6:c.99del	ENSP00000410496.2:p.Pro34HisfsTer19
ENST00000425395.6:c.*92del	ENSP00000405270.2:n.*92del
ENST00000443238.6:c.123del	ENSP00000409798.2:p.Pro42HisfsTer19
ENST00000444394.6:c.270del	ENSP00000411911.2:p.Pro91HisfsTer19
ENST00000444573.2:c.489del	ENSP00000392603.2:p.Pro164HisfsTer19
ENST00000451799.2:c.489del	ENSP00000416316.2:p.Pro164HisfsTer?
ENST00000469597.2:c.*293del	ENSP00000498417.1:n.*293del
ENST00000488080.6:n.288del
ENST00000650731.1:c.-31del	ENSP00000499146.1:n.-31del
ENST00000650734.1:c.*545del	ENSP00000498742.1:n.*545del
ENST00000650770.1:c.*559del	ENSP00000499036.1:n.*559del
ENST00000650938.1:c.169del
ENST00000651246.1:c.237del	ENSP00000498484.1:p.Pro80HisfsTer19
ENST00000651315.1:c.237del	ENSP00000498692.1:p.Pro80HisfsTer?
ENST00000651373.1:c.159del	ENSP00000499174.1:p.Pro54HisfsTer19
ENST00000651501.1:c.*92del	ENSP00000498894.1:n.*92del
ENST00000651580.1:c.*224del	ENSP00000498631.1:n.*224del
ENST00000651599.1:c.*129del	ENSP00000498535.1:n.*129del
ENST00000651717.1:c.253-12019del	ENSP00000499124.1:n.253-12019del
ENST00000651803.1:c.*637del	ENSP00000499007.1:n.*637del
ENST00000651971.1:c.*445del	ENSP00000499035.1:n.*445del
ENST00000652036.1:c.270del	ENSP00000499139.1:p.Pro91HisfsTer19
ENST00000652154.1:n.543del
ENST00000652208.1:c.489del	ENSP00000498475.1:p.Pro164HisfsTer?
ENST00000652434.1:c.606del	ENSP00000498549.1:p.Pro203HisfsTer?
ENST00000652437.1:n.788del
ENST00000652674.1:c.*129del	ENSP00000498599.1:n.*129del
ENST00000652734.1:n.542del
ENST00000652756.1:c.489del	ENSP00000498281.1:p.Pro164HisfsTer?
ENST00000652768.1:n.537del
ENST00000295497.11:c.270del	ENSP00000295497.7:p.Pro91HisfsTer19
ENST00000409089.6:c.-31del	ENSP00000386322.2:n.-31del
ENST00000409156.7:c.567del	ENSP00000386470.3:p.Pro190HisfsTer19
ENST00000409597.5:c.93del	ENSP00000386469.1:p.Pro32HisfsTer19
ENST00000409900.7:c.645del	ENSP00000386741.3:p.Pro216HisfsTer19
ENST00000413882.5:c.99del	ENSP00000410496.1:p.Pro34HisfsTer19
ENST00000425395.5:c.*196del	ENSP00000405270.1:n.*196del
ENST00000443238.5:c.123del	ENSP00000409798.1:p.Pro42HisfsTer19
ENST00000444394.5:c.-31del	ENSP00000411911.1:n.-31del
ENST00000444573.1:c.270del	ENSP00000392603.1:p.Pro91HisfsTer19
ENST00000485882.1:n.104del
ENST00000488080.5:n.496del
NM_001025201.3:c.567del	NP_001020372.2:p.Pro190HisfsTer19
NM_001206602.1:c.270del	NP_001193531.1:p.Pro91HisfsTer19
NM_001822.5:c.645del	NP_001813.1:p.Pro216HisfsTer19
NR_038133.1:n.511del
NM_001025201.4:c.567del	NP_001020372.2:p.Pro190HisfsTer19
NM_001206602.2:c.270del	NP_001193531.1:p.Pro91HisfsTer19
NM_001371513.1:c.645del	NP_001358442.1:p.Pro216HisfsTer19
NM_001371514.1:c.696del	NP_001358443.1:p.Pro233HisfsTer19
NM_001822.7:c.645del MANE Select	NP_001813.1:p.Pro216HisfsTer19
NR_038133.2:n.513del