Canonical Allele Identifier: CA1308854816
Gene: CHN1 HGNC NCBI

Linked Data

dbSNP Id: rs1684667046

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799998_174800002del , CM000664.2:g.174799998_174800002del GRCh38
NC_000002.11:g.175664726_175664730del , CM000664.1:g.175664726_175664730del GRCh37
NC_000002.10:g.175372972_175372976del NCBI36
NG_012642.1:g.210442_210446del
NG_012642.2:g.210442_210446del

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*115_*119del ENSP00000295497.7:n.*115_*119del
ENST00000295497.12:c.*115_*119del ENSP00000295497.7:n.*115_*119del
ENST00000409900.9:c.*115_*119del MANE Select ENSP00000386741.4:n.*115_*119del
ENST00000413882.6:c.*115_*119del ENSP00000410496.2:n.*115_*119del
ENST00000443238.6:c.*115_*119del ENSP00000409798.2:n.*115_*119del
ENST00000488080.6:n.1138_1142del
ENST00000650731.1:c.*115_*119del ENSP00000499146.1:n.*115_*119del
ENST00000650938.1:c.881_885del
ENST00000651246.1:c.*115_*119del ENSP00000498484.1:n.*115_*119del
ENST00000651501.1:c.*942_*946del ENSP00000498894.1:n.*942_*946del
ENST00000651717.1:c.*771_*775del ENSP00000499124.1:n.*771_*775del
ENST00000652036.1:c.*115_*119del ENSP00000499139.1:n.*115_*119del
ENST00000295497.11:c.*115_*119del ENSP00000295497.7:n.*115_*119del
ENST00000409156.7:c.*115_*119del ENSP00000386470.3:n.*115_*119del
ENST00000409597.5:c.*115_*119del ENSP00000386469.1:n.*115_*119del
ENST00000409900.7:c.*115_*119del ENSP00000386741.3:n.*115_*119del
ENST00000488080.5:n.1346_1350del
ENST00000492964.1:n.638_642del
NM_001025201.3:c.*115_*119del NP_001020372.2:n.*115_*119del
NM_001206602.1:c.*115_*119del NP_001193531.1:n.*115_*119del
NM_001822.5:c.*115_*119del NP_001813.1:n.*115_*119del
NR_038133.1:n.1361_1365del
NM_001025201.4:c.*115_*119del NP_001020372.2:n.*115_*119del
NM_001206602.2:c.*115_*119del NP_001193531.1:n.*115_*119del
NM_001371513.1:c.*115_*119del NP_001358442.1:n.*115_*119del
NM_001371514.1:c.*115_*119del NP_001358443.1:n.*115_*119del
NM_001822.7:c.*115_*119del MANE Select NP_001813.1:n.*115_*119del
NR_038133.2:n.1363_1367del