Canonical Allele Identifier: CA2753244827
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800080del , CM000664.2:g.174800080del GRCh38
NC_000002.11:g.175664808del , CM000664.1:g.175664808del GRCh37
NC_000002.10:g.175373054del NCBI36
NG_012642.1:g.210363del
NG_012642.2:g.210363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.*36del ENSP00000295497.7:n.*36del
ENST00000295497.12:c.*36del ENSP00000295497.7:n.*36del
ENST00000409900.9:c.*36del MANE Select ENSP00000386741.4:n.*36del
ENST00000413882.6:c.*36del ENSP00000410496.2:n.*36del
ENST00000443238.6:c.*36del ENSP00000409798.2:n.*36del
ENST00000488080.6:n.1059del
ENST00000650731.1:c.*36del ENSP00000499146.1:n.*36del
ENST00000650938.1:c.802del
ENST00000651246.1:c.*36del ENSP00000498484.1:n.*36del
ENST00000651501.1:c.*863del ENSP00000498894.1:n.*863del
ENST00000651717.1:c.*692del ENSP00000499124.1:n.*692del
ENST00000652036.1:c.*36del ENSP00000499139.1:n.*36del
ENST00000295497.11:c.*36del ENSP00000295497.7:n.*36del
ENST00000409156.7:c.*36del ENSP00000386470.3:n.*36del
ENST00000409597.5:c.*36del ENSP00000386469.1:n.*36del
ENST00000409900.7:c.*36del ENSP00000386741.3:n.*36del
ENST00000488080.5:n.1267del
ENST00000492964.1:n.559del
NM_001025201.3:c.*36del NP_001020372.2:n.*36del
NM_001206602.1:c.*36del NP_001193531.1:n.*36del
NM_001822.5:c.*36del NP_001813.1:n.*36del
NR_038133.1:n.1282del
NM_001025201.4:c.*36del NP_001020372.2:n.*36del
NM_001206602.2:c.*36del NP_001193531.1:n.*36del
NM_001371513.1:c.*36del NP_001358442.1:n.*36del
NM_001371514.1:c.*36del NP_001358443.1:n.*36del
NM_001822.7:c.*36del MANE Select NP_001813.1:n.*36del
NR_038133.2:n.1284del