Canonical Allele Identifier: CA1308854535
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174799422_174799426delinsAAATT , CM000664.2:g.174799422_174799426delinsAAATT GRCh38
NC_000002.11:g.175664150_175664154delinsAAATT , CM000664.1:g.175664150_175664154delinsAAATT GRCh37
NC_000002.10:g.175372396_175372400delinsAAATT NCBI36
NG_012642.1:g.211017_211021delinsAATTT
NG_012642.2:g.211017_211021delinsAATTT

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*690_*694delinsAATTT ENSP00000295497.7:n.*690_*694delinsAATTT
ENST00000295497.12:c.*690_*694delinsAATTT ENSP00000295497.7:n.*690_*694delinsAATTT
ENST00000409900.9:c.*690_*694delinsAATTT MANE Select ENSP00000386741.4:n.*690_*694delinsAATTT
ENST00000443238.6:c.*690_*694delinsAATTT ENSP00000409798.2:n.*690_*694delinsAATTT
ENST00000652036.1:c.*690_*694delinsAATTT ENSP00000499139.1:n.*690_*694delinsAATTT
ENST00000409900.7:c.*690_*694delinsAATTT ENSP00000386741.3:n.*690_*694delinsAATTT
NM_001025201.3:c.*690_*694delinsAATTT NP_001020372.2:n.*690_*694delinsAATTT
NM_001206602.1:c.*690_*694delinsAATTT NP_001193531.1:n.*690_*694delinsAATTT
NM_001822.5:c.*690_*694delinsAATTT NP_001813.1:n.*690_*694delinsAATTT
NR_038133.1:n.1936_1940delinsAATTT
NM_001025201.4:c.*690_*694delinsAATTT NP_001020372.2:n.*690_*694delinsAATTT
NM_001206602.2:c.*690_*694delinsAATTT NP_001193531.1:n.*690_*694delinsAATTT
NM_001371513.1:c.*690_*694delinsAATTT NP_001358442.1:n.*690_*694delinsAATTT
NM_001371514.1:c.*690_*694delinsAATTT NP_001358443.1:n.*690_*694delinsAATTT
NM_001822.7:c.*690_*694delinsAATTT MANE Select NP_001813.1:n.*690_*694delinsAATTT
NR_038133.2:n.1938_1942delinsAATTT