Canonical Allele Identifier: CA2753244780
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799338_174799341del , CM000664.2:g.174799338_174799341del GRCh38
NC_000002.11:g.175664066_175664069del , CM000664.1:g.175664066_175664069del GRCh37
NC_000002.10:g.175372312_175372315del NCBI36
NG_012642.1:g.211105_211108del
NG_012642.2:g.211105_211108del

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*778_*781del ENSP00000295497.7:n.*778_*781del
ENST00000295497.12:c.*778_*781del ENSP00000295497.7:n.*778_*781del
ENST00000409900.9:c.*778_*781del MANE Select ENSP00000386741.4:n.*778_*781del
NM_001025201.3:c.*778_*781del NP_001020372.2:n.*778_*781del
NM_001206602.1:c.*778_*781del NP_001193531.1:n.*778_*781del
NM_001822.5:c.*778_*781del NP_001813.1:n.*778_*781del
NR_038133.1:n.2024_2027del
NM_001025201.4:c.*778_*781del NP_001020372.2:n.*778_*781del
NM_001206602.2:c.*778_*781del NP_001193531.1:n.*778_*781del
NM_001371513.1:c.*778_*781del NP_001358442.1:n.*778_*781del
NM_001371514.1:c.*778_*781del NP_001358443.1:n.*778_*781del
NM_001822.7:c.*778_*781del MANE Select NP_001813.1:n.*778_*781del
NR_038133.2:n.2026_2029del