Canonical Allele Identifier: CA2753244784
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799440_174799449del , CM000664.2:g.174799440_174799449del GRCh38
NC_000002.11:g.175664168_175664177del , CM000664.1:g.175664168_175664177del GRCh37
NC_000002.10:g.175372414_175372423del NCBI36
NG_012642.1:g.210994_211003del
NG_012642.2:g.210994_211003del

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*667_*676del ENSP00000295497.7:n.*667_*676del
ENST00000295497.12:c.*667_*676del ENSP00000295497.7:n.*667_*676del
ENST00000409900.9:c.*667_*676del MANE Select ENSP00000386741.4:n.*667_*676del
ENST00000443238.6:c.*667_*676del ENSP00000409798.2:n.*667_*676del
ENST00000652036.1:c.*667_*676del ENSP00000499139.1:n.*667_*676del
ENST00000409900.7:c.*667_*676del ENSP00000386741.3:n.*667_*676del
NM_001025201.3:c.*667_*676del NP_001020372.2:n.*667_*676del
NM_001206602.1:c.*667_*676del NP_001193531.1:n.*667_*676del
NM_001822.5:c.*667_*676del NP_001813.1:n.*667_*676del
NR_038133.1:n.1913_1922del
NM_001025201.4:c.*667_*676del NP_001020372.2:n.*667_*676del
NM_001206602.2:c.*667_*676del NP_001193531.1:n.*667_*676del
NM_001371513.1:c.*667_*676del NP_001358442.1:n.*667_*676del
NM_001371514.1:c.*667_*676del NP_001358443.1:n.*667_*676del
NM_001822.7:c.*667_*676del MANE Select NP_001813.1:n.*667_*676del
NR_038133.2:n.1915_1924del