Canonical Allele Identifier: CA2662024298

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824491-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824493del , CM000664.2:g.174824493del	GRCh38
NC_000002.11:g.175689221del , CM000664.1:g.175689221del	GRCh37
NC_000002.10:g.175397467del	NCBI36
NG_012642.1:g.185951del
NG_012642.2:g.185951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.279del	ENSP00000295497.7:p.Trp93CysfsTer17
ENST00000444394.7:c.279del	ENSP00000411911.2:p.Trp93CysfsTer17
ENST00000295497.12:c.279del	ENSP00000295497.7:p.Trp93CysfsTer17
ENST00000409089.7:c.-22del	ENSP00000386322.3:n.-22del
ENST00000409900.9:c.654del MANE Select	ENSP00000386741.4:p.Trp218CysfsTer17
ENST00000413882.6:c.108del	ENSP00000410496.2:p.Trp36CysfsTer17
ENST00000425395.6:c.*101del	ENSP00000405270.2:n.*101del
ENST00000443238.6:c.132del	ENSP00000409798.2:p.Trp44CysfsTer17
ENST00000444394.6:c.279del	ENSP00000411911.2:p.Trp93CysfsTer17
ENST00000444573.2:c.498del	ENSP00000392603.2:p.Trp166CysfsTer17
ENST00000469597.2:c.*302del	ENSP00000498417.1:n.*302del
ENST00000488080.6:n.297del
ENST00000650731.1:c.-22del	ENSP00000499146.1:n.-22del
ENST00000650770.1:c.*568del	ENSP00000499036.1:n.*568del
ENST00000650938.1:c.178del
ENST00000651246.1:c.246del	ENSP00000498484.1:p.Trp82CysfsTer17
ENST00000651373.1:c.168del	ENSP00000499174.1:p.Trp56CysfsTer17
ENST00000651501.1:c.*101del	ENSP00000498894.1:n.*101del
ENST00000651717.1:c.253-12010del	ENSP00000499124.1:n.253-12010del
ENST00000652036.1:c.279del	ENSP00000499139.1:p.Trp93CysfsTer17
ENST00000652154.1:n.552del
ENST00000652734.1:n.551del
ENST00000652768.1:n.546del
ENST00000295497.11:c.279del	ENSP00000295497.7:p.Trp93CysfsTer17
ENST00000409089.6:c.-22del	ENSP00000386322.2:n.-22del
ENST00000409156.7:c.576del	ENSP00000386470.3:p.Trp192CysfsTer17
ENST00000409597.5:c.102del	ENSP00000386469.1:p.Trp34CysfsTer17
ENST00000409900.7:c.654del	ENSP00000386741.3:p.Trp218CysfsTer17
ENST00000413882.5:c.108del	ENSP00000410496.1:p.Trp36CysfsTer17
ENST00000425395.5:c.*205del	ENSP00000405270.1:n.*205del
ENST00000443238.5:c.132del	ENSP00000409798.1:p.Trp44CysfsTer17
ENST00000444394.5:c.-22del	ENSP00000411911.1:n.-22del
ENST00000444573.1:c.279del	ENSP00000392603.1:p.Trp93CysfsTer17
ENST00000485882.1:n.113del
ENST00000488080.5:n.505del
NM_001025201.3:c.576del	NP_001020372.2:p.Trp192CysfsTer17
NM_001206602.1:c.279del	NP_001193531.1:p.Trp93CysfsTer17
NM_001822.5:c.654del	NP_001813.1:p.Trp218CysfsTer17
NR_038133.1:n.520del
NM_001025201.4:c.576del	NP_001020372.2:p.Trp192CysfsTer17
NM_001206602.2:c.279del	NP_001193531.1:p.Trp93CysfsTer17
NM_001371513.1:c.654del	NP_001358442.1:p.Trp218CysfsTer17
NM_001371514.1:c.705del	NP_001358443.1:p.Trp235CysfsTer17
NM_001822.7:c.654del MANE Select	NP_001813.1:p.Trp218CysfsTer17
NR_038133.2:n.522del