Canonical Allele Identifier: CA1308854537
Gene: CHN1 HGNC NCBI

Linked Data

dbSNP Id: rs1684642834

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799425_174799427del , CM000664.2:g.174799425_174799427del GRCh38
NC_000002.11:g.175664153_175664155del , CM000664.1:g.175664153_175664155del GRCh37
NC_000002.10:g.175372399_175372401del NCBI36
NG_012642.1:g.211017_211019del
NG_012642.2:g.211017_211019del

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*690_*692del ENSP00000295497.7:n.*690_*692del
ENST00000295497.12:c.*690_*692del ENSP00000295497.7:n.*690_*692del
ENST00000409900.9:c.*690_*692del MANE Select ENSP00000386741.4:n.*690_*692del
ENST00000443238.6:c.*690_*692del ENSP00000409798.2:n.*690_*692del
ENST00000652036.1:c.*690_*692del ENSP00000499139.1:n.*690_*692del
ENST00000409900.7:c.*690_*692del ENSP00000386741.3:n.*690_*692del
NM_001025201.3:c.*690_*692del NP_001020372.2:n.*690_*692del
NM_001206602.1:c.*690_*692del NP_001193531.1:n.*690_*692del
NM_001822.5:c.*690_*692del NP_001813.1:n.*690_*692del
NR_038133.1:n.1936_1938del
NM_001025201.4:c.*690_*692del NP_001020372.2:n.*690_*692del
NM_001206602.2:c.*690_*692del NP_001193531.1:n.*690_*692del
NM_001371513.1:c.*690_*692del NP_001358442.1:n.*690_*692del
NM_001371514.1:c.*690_*692del NP_001358443.1:n.*690_*692del
NM_001822.7:c.*690_*692del MANE Select NP_001813.1:n.*690_*692del
NR_038133.2:n.1938_1940del