Canonical Allele Identifier: CA2577164171
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824396_174824397del , CM000664.2:g.174824396_174824397del GRCh38
NC_000002.11:g.175689124_175689125del , CM000664.1:g.175689124_175689125del GRCh37
NC_000002.10:g.175397370_175397371del NCBI36
NG_012642.1:g.186048_186049del
NG_012642.2:g.186048_186049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.337+39_337+40del ENSP00000295497.7:n.337+39_337+40del
ENST00000444394.7:c.337+39_337+40del ENSP00000411911.2:n.337+39_337+40del
ENST00000295497.12:c.337+39_337+40del ENSP00000295497.7:n.337+39_337+40del
ENST00000409089.7:c.37+39_37+40del ENSP00000386322.3:n.37+39_37+40del
ENST00000409900.9:c.712+39_712+40del MANE Select ENSP00000386741.4:n.712+39_712+40del
ENST00000413882.6:c.166+39_166+40del ENSP00000410496.2:n.166+39_166+40del
ENST00000425395.6:c.*159+39_*159+40del ENSP00000405270.2:n.*159+39_*159+40del
ENST00000443238.6:c.190+39_190+40del ENSP00000409798.2:n.190+39_190+40del
ENST00000444394.6:c.337+39_337+40del ENSP00000411911.2:n.337+39_337+40del
ENST00000444573.2:c.556+39_556+40del ENSP00000392603.2:n.556+39_556+40del
ENST00000488080.6:n.355+39_355+40del
ENST00000650731.1:c.37+39_37+40del ENSP00000499146.1:n.37+39_37+40del
ENST00000650938.1:c.236+39_236+40del
ENST00000651246.1:c.304+39_304+40del ENSP00000498484.1:n.304+39_304+40del
ENST00000651373.1:c.226+39_226+40del ENSP00000499174.1:n.226+39_226+40del
ENST00000651501.1:c.*159+39_*159+40del ENSP00000498894.1:n.*159+39_*159+40del
ENST00000651717.1:c.253-11913_253-11912del ENSP00000499124.1:n.253-11913_253-11912del
ENST00000652036.1:c.337+39_337+40del ENSP00000499139.1:n.337+39_337+40del
ENST00000652154.1:n.610+39_610+40del
ENST00000295497.11:c.337+39_337+40del ENSP00000295497.7:n.337+39_337+40del
ENST00000409089.6:c.37+39_37+40del ENSP00000386322.2:n.37+39_37+40del
ENST00000409156.7:c.634+39_634+40del ENSP00000386470.3:n.634+39_634+40del
ENST00000409597.5:c.160+39_160+40del ENSP00000386469.1:n.160+39_160+40del
ENST00000409900.7:c.712+39_712+40del ENSP00000386741.3:n.712+39_712+40del
ENST00000413882.5:c.166+39_166+40del ENSP00000410496.1:n.166+39_166+40del
ENST00000425395.5:c.*263+39_*263+40del ENSP00000405270.1:n.*263+39_*263+40del
ENST00000443238.5:c.190+39_190+40del ENSP00000409798.1:n.190+39_190+40del
ENST00000444394.5:c.37+39_37+40del ENSP00000411911.1:n.37+39_37+40del
ENST00000444573.1:c.337+39_337+40del ENSP00000392603.1:n.337+39_337+40del
ENST00000485882.1:n.171+39_171+40del
ENST00000488080.5:n.563+39_563+40del
NM_001025201.3:c.634+39_634+40del NP_001020372.2:n.634+39_634+40del
NM_001206602.1:c.337+39_337+40del NP_001193531.1:n.337+39_337+40del
NM_001822.5:c.712+39_712+40del NP_001813.1:n.712+39_712+40del
NR_038133.1:n.578+39_578+40del
NM_001025201.4:c.634+39_634+40del NP_001020372.2:n.634+39_634+40del
NM_001206602.2:c.337+39_337+40del NP_001193531.1:n.337+39_337+40del
NM_001371513.1:c.712+39_712+40del NP_001358442.1:n.712+39_712+40del
NM_001371514.1:c.763+39_763+40del NP_001358443.1:n.763+39_763+40del
NM_001822.7:c.712+39_712+40del MANE Select NP_001813.1:n.712+39_712+40del
NR_038133.2:n.580+39_580+40del