Canonical Allele Identifier: CA2662024296

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824435-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824436del , CM000664.2:g.174824436del	GRCh38
NC_000002.11:g.175689164del , CM000664.1:g.175689164del	GRCh37
NC_000002.10:g.175397410del	NCBI36
NG_012642.1:g.186007del
NG_012642.2:g.186007del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.335del	ENSP00000295497.7:p.Ala112GlufsTer5
ENST00000444394.7:c.335del	ENSP00000411911.2:p.Ala112GlufsTer5
ENST00000295497.12:c.335del	ENSP00000295497.7:p.Ala112GlufsTer5
ENST00000409089.7:c.35del	ENSP00000386322.3:p.Ala12GlufsTer22
ENST00000409900.9:c.710del MANE Select	ENSP00000386741.4:p.Ala237GlufsTer5
ENST00000413882.6:c.164del	ENSP00000410496.2:p.Ala55GlufsTer5
ENST00000425395.6:c.*157del	ENSP00000405270.2:n.*157del
ENST00000443238.6:c.188del	ENSP00000409798.2:p.Ala63GlufsTer5
ENST00000444394.6:c.335del	ENSP00000411911.2:p.Ala112GlufsTer5
ENST00000444573.2:c.554del	ENSP00000392603.2:p.Ala185GlufsTer22
ENST00000488080.6:n.353del
ENST00000650731.1:c.35del	ENSP00000499146.1:p.Ala12GlufsTer5
ENST00000650938.1:c.234del
ENST00000651246.1:c.302del	ENSP00000498484.1:p.Ala101GlufsTer5
ENST00000651373.1:c.224del	ENSP00000499174.1:p.Ala75GlufsTer5
ENST00000651501.1:c.*157del	ENSP00000498894.1:n.*157del
ENST00000651717.1:c.253-11954del	ENSP00000499124.1:n.253-11954del
ENST00000652036.1:c.335del	ENSP00000499139.1:p.Ala112GlufsTer22
ENST00000652154.1:n.608del
ENST00000295497.11:c.335del	ENSP00000295497.7:p.Ala112GlufsTer5
ENST00000409089.6:c.35del	ENSP00000386322.2:p.Ala12GlufsTer22
ENST00000409156.7:c.632del	ENSP00000386470.3:p.Ala211GlufsTer5
ENST00000409597.5:c.158del	ENSP00000386469.1:p.Ala53GlufsTer5
ENST00000409900.7:c.710del	ENSP00000386741.3:p.Ala237GlufsTer5
ENST00000413882.5:c.164del	ENSP00000410496.1:p.Ala55GlufsTer5
ENST00000425395.5:c.*261del	ENSP00000405270.1:n.*261del
ENST00000443238.5:c.188del	ENSP00000409798.1:p.Ala63GlufsTer5
ENST00000444394.5:c.35del	ENSP00000411911.1:p.Ala12GlufsTer5
ENST00000444573.1:c.335del	ENSP00000392603.1:p.Ala112GlufsTer22
ENST00000485882.1:n.169del
ENST00000488080.5:n.561del
NM_001025201.3:c.632del	NP_001020372.2:p.Ala211GlufsTer5
NM_001206602.1:c.335del	NP_001193531.1:p.Ala112GlufsTer5
NM_001822.5:c.710del	NP_001813.1:p.Ala237GlufsTer5
NR_038133.1:n.576del
NM_001025201.4:c.632del	NP_001020372.2:p.Ala211GlufsTer5
NM_001206602.2:c.335del	NP_001193531.1:p.Ala112GlufsTer5
NM_001371513.1:c.710del	NP_001358442.1:p.Ala237GlufsTer5
NM_001371514.1:c.761del	NP_001358443.1:p.Ala254GlufsTer5
NM_001822.7:c.710del MANE Select	NP_001813.1:p.Ala237GlufsTer5
NR_038133.2:n.578del