Canonical Allele Identifier: CA1308854806
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799979_174799981delinsCAG , CM000664.2:g.174799979_174799981delinsCAG GRCh38
NC_000002.11:g.175664707_175664709delinsCAG , CM000664.1:g.175664707_175664709delinsCAG GRCh37
NC_000002.10:g.175372953_175372955delinsCAG NCBI36
NG_012642.1:g.210462_210464delinsCTG
NG_012642.2:g.210462_210464delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.*135_*137delinsCTG ENSP00000295497.7:n.*135_*137delinsCTG
ENST00000295497.12:c.*135_*137delinsCTG ENSP00000295497.7:n.*135_*137delinsCTG
ENST00000409900.9:c.*135_*137delinsCTG MANE Select ENSP00000386741.4:n.*135_*137delinsCTG
ENST00000413882.6:c.*135_*137delinsCTG ENSP00000410496.2:n.*135_*137delinsCTG
ENST00000443238.6:c.*135_*137delinsCTG ENSP00000409798.2:n.*135_*137delinsCTG
ENST00000488080.6:n.1158_1160delinsCTG
ENST00000650731.1:c.*135_*137delinsCTG ENSP00000499146.1:n.*135_*137delinsCTG
ENST00000650938.1:c.901_903delinsCTG
ENST00000651246.1:c.*135_*137delinsCTG ENSP00000498484.1:n.*135_*137delinsCTG
ENST00000651501.1:c.*962_*964delinsCTG ENSP00000498894.1:n.*962_*964delinsCTG
ENST00000651717.1:c.*791_*793delinsCTG ENSP00000499124.1:n.*791_*793delinsCTG
ENST00000652036.1:c.*135_*137delinsCTG ENSP00000499139.1:n.*135_*137delinsCTG
ENST00000295497.11:c.*135_*137delinsCTG ENSP00000295497.7:n.*135_*137delinsCTG
ENST00000409597.5:c.*135_*137delinsCTG ENSP00000386469.1:n.*135_*137delinsCTG
ENST00000409900.7:c.*135_*137delinsCTG ENSP00000386741.3:n.*135_*137delinsCTG
ENST00000488080.5:n.1366_1368delinsCTG
ENST00000492964.1:n.658_660delinsCTG
NM_001025201.3:c.*135_*137delinsCTG NP_001020372.2:n.*135_*137delinsCTG
NM_001206602.1:c.*135_*137delinsCTG NP_001193531.1:n.*135_*137delinsCTG
NM_001822.5:c.*135_*137delinsCTG NP_001813.1:n.*135_*137delinsCTG
NR_038133.1:n.1381_1383delinsCTG
NM_001025201.4:c.*135_*137delinsCTG NP_001020372.2:n.*135_*137delinsCTG
NM_001206602.2:c.*135_*137delinsCTG NP_001193531.1:n.*135_*137delinsCTG
NM_001371513.1:c.*135_*137delinsCTG NP_001358442.1:n.*135_*137delinsCTG
NM_001371514.1:c.*135_*137delinsCTG NP_001358443.1:n.*135_*137delinsCTG
NM_001822.7:c.*135_*137delinsCTG MANE Select NP_001813.1:n.*135_*137delinsCTG
NR_038133.2:n.1383_1385delinsCTG