Canonical Allele Identifier: CA1308865680
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824412_174824417delinsGAGACA , CM000664.2:g.174824412_174824417delinsGAGACA GRCh38
NC_000002.11:g.175689140_175689145delinsGAGACA , CM000664.1:g.175689140_175689145delinsGAGACA GRCh37
NC_000002.10:g.175397386_175397391delinsGAGACA NCBI36
NG_012642.1:g.186026_186031delinsTGTCTC
NG_012642.2:g.186026_186031delinsTGTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.337+17_337+22delinsTGTCTC ENSP00000295497.7:n.337+17_337+22delinsTGTCTC
ENST00000444394.7:c.337+17_337+22delinsTGTCTC ENSP00000411911.2:n.337+17_337+22delinsTGTCTC
ENST00000295497.12:c.337+17_337+22delinsTGTCTC ENSP00000295497.7:n.337+17_337+22delinsTGTCTC
ENST00000409089.7:c.37+17_37+22delinsTGTCTC ENSP00000386322.3:n.37+17_37+22delinsTGTCTC
ENST00000409900.9:c.712+17_712+22delinsTGTCTC MANE Select ENSP00000386741.4:n.712+17_712+22delinsTGTCTC
ENST00000413882.6:c.166+17_166+22delinsTGTCTC ENSP00000410496.2:n.166+17_166+22delinsTGTCTC
ENST00000425395.6:c.*159+17_*159+22delinsTGTCTC ENSP00000405270.2:n.*159+17_*159+22delinsTGTCTC
ENST00000443238.6:c.190+17_190+22delinsTGTCTC ENSP00000409798.2:n.190+17_190+22delinsTGTCTC
ENST00000444394.6:c.337+17_337+22delinsTGTCTC ENSP00000411911.2:n.337+17_337+22delinsTGTCTC
ENST00000444573.2:c.556+17_556+22delinsTGTCTC ENSP00000392603.2:n.556+17_556+22delinsTGTCTC
ENST00000488080.6:n.355+17_355+22delinsTGTCTC
ENST00000650731.1:c.37+17_37+22delinsTGTCTC ENSP00000499146.1:n.37+17_37+22delinsTGTCTC
ENST00000650938.1:c.236+17_236+22delinsTGTCTC
ENST00000651246.1:c.304+17_304+22delinsTGTCTC ENSP00000498484.1:n.304+17_304+22delinsTGTCTC
ENST00000651373.1:c.226+17_226+22delinsTGTCTC ENSP00000499174.1:n.226+17_226+22delinsTGTCTC
ENST00000651501.1:c.*159+17_*159+22delinsTGTCTC ENSP00000498894.1:n.*159+17_*159+22delinsTGTCTC
ENST00000651717.1:c.253-11935_253-11930delinsTGTCTC ENSP00000499124.1:n.253-11935_253-11930delinsTGTCTC
ENST00000652036.1:c.337+17_337+22delinsTGTCTC ENSP00000499139.1:n.337+17_337+22delinsTGTCTC
ENST00000652154.1:n.610+17_610+22delinsTGTCTC
ENST00000295497.11:c.337+17_337+22delinsTGTCTC ENSP00000295497.7:n.337+17_337+22delinsTGTCTC
ENST00000409089.6:c.37+17_37+22delinsTGTCTC ENSP00000386322.2:n.37+17_37+22delinsTGTCTC
ENST00000409156.7:c.634+17_634+22delinsTGTCTC ENSP00000386470.3:n.634+17_634+22delinsTGTCTC
ENST00000409597.5:c.160+17_160+22delinsTGTCTC ENSP00000386469.1:n.160+17_160+22delinsTGTCTC
ENST00000409900.7:c.712+17_712+22delinsTGTCTC ENSP00000386741.3:n.712+17_712+22delinsTGTCTC
ENST00000413882.5:c.166+17_166+22delinsTGTCTC ENSP00000410496.1:n.166+17_166+22delinsTGTCTC
ENST00000425395.5:c.*263+17_*263+22delinsTGTCTC ENSP00000405270.1:n.*263+17_*263+22delinsTGTCTC
ENST00000443238.5:c.190+17_190+22delinsTGTCTC ENSP00000409798.1:n.190+17_190+22delinsTGTCTC
ENST00000444394.5:c.37+17_37+22delinsTGTCTC ENSP00000411911.1:n.37+17_37+22delinsTGTCTC
ENST00000444573.1:c.337+17_337+22delinsTGTCTC ENSP00000392603.1:n.337+17_337+22delinsTGTCTC
ENST00000485882.1:n.171+17_171+22delinsTGTCTC
ENST00000488080.5:n.563+17_563+22delinsTGTCTC
NM_001025201.3:c.634+17_634+22delinsTGTCTC NP_001020372.2:n.634+17_634+22delinsTGTCTC
NM_001206602.1:c.337+17_337+22delinsTGTCTC NP_001193531.1:n.337+17_337+22delinsTGTCTC
NM_001822.5:c.712+17_712+22delinsTGTCTC NP_001813.1:n.712+17_712+22delinsTGTCTC
NR_038133.1:n.578+17_578+22delinsTGTCTC
NM_001025201.4:c.634+17_634+22delinsTGTCTC NP_001020372.2:n.634+17_634+22delinsTGTCTC
NM_001206602.2:c.337+17_337+22delinsTGTCTC NP_001193531.1:n.337+17_337+22delinsTGTCTC
NM_001371513.1:c.712+17_712+22delinsTGTCTC NP_001358442.1:n.712+17_712+22delinsTGTCTC
NM_001371514.1:c.763+17_763+22delinsTGTCTC NP_001358443.1:n.763+17_763+22delinsTGTCTC
NM_001822.7:c.712+17_712+22delinsTGTCTC MANE Select NP_001813.1:n.712+17_712+22delinsTGTCTC
NR_038133.2:n.580+17_580+22delinsTGTCTC