Canonical Allele Identifier: CA2753244811
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799966_174799977del , CM000664.2:g.174799966_174799977del GRCh38
NC_000002.11:g.175664694_175664705del , CM000664.1:g.175664694_175664705del GRCh37
NC_000002.10:g.175372940_175372951del NCBI36
NG_012642.1:g.210466_210477del
NG_012642.2:g.210466_210477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.*139_*150del ENSP00000295497.7:n.*139_*150del
ENST00000295497.12:c.*139_*150del ENSP00000295497.7:n.*139_*150del
ENST00000409900.9:c.*139_*150del MANE Select ENSP00000386741.4:n.*139_*150del
ENST00000413882.6:c.*139_*150del ENSP00000410496.2:n.*139_*150del
ENST00000443238.6:c.*139_*150del ENSP00000409798.2:n.*139_*150del
ENST00000488080.6:n.1162_1173del
ENST00000650731.1:c.*139_*150del ENSP00000499146.1:n.*139_*150del
ENST00000650938.1:c.905_916del
ENST00000651246.1:c.*139_*150del ENSP00000498484.1:n.*139_*150del
ENST00000651501.1:c.*966_*977del ENSP00000498894.1:n.*966_*977del
ENST00000651717.1:c.*795_*806del ENSP00000499124.1:n.*795_*806del
ENST00000652036.1:c.*139_*150del ENSP00000499139.1:n.*139_*150del
ENST00000295497.11:c.*139_*150del ENSP00000295497.7:n.*139_*150del
ENST00000409597.5:c.*139_*150del ENSP00000386469.1:n.*139_*150del
ENST00000409900.7:c.*139_*150del ENSP00000386741.3:n.*139_*150del
ENST00000488080.5:n.1370_1381del
ENST00000492964.1:n.662_673del
NM_001025201.3:c.*139_*150del NP_001020372.2:n.*139_*150del
NM_001206602.1:c.*139_*150del NP_001193531.1:n.*139_*150del
NM_001822.5:c.*139_*150del NP_001813.1:n.*139_*150del
NR_038133.1:n.1385_1396del
NM_001025201.4:c.*139_*150del NP_001020372.2:n.*139_*150del
NM_001206602.2:c.*139_*150del NP_001193531.1:n.*139_*150del
NM_001371513.1:c.*139_*150del NP_001358442.1:n.*139_*150del
NM_001371514.1:c.*139_*150del NP_001358443.1:n.*139_*150del
NM_001822.7:c.*139_*150del MANE Select NP_001813.1:n.*139_*150del
NR_038133.2:n.1387_1398del