Canonical Allele Identifier: CA2753244825
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800075_174800076insAGG , CM000664.2:g.174800075_174800076insAGG GRCh38
NC_000002.11:g.175664803_175664804insAGG , CM000664.1:g.175664803_175664804insAGG GRCh37
NC_000002.10:g.175373049_175373050insAGG NCBI36
NG_012642.1:g.210367_210368insCCT
NG_012642.2:g.210367_210368insCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.*40_*41insCCT ENSP00000295497.7:n.*40_*41insCCT
ENST00000295497.12:c.*40_*41insCCT ENSP00000295497.7:n.*40_*41insCCT
ENST00000409900.9:c.*40_*41insCCT MANE Select ENSP00000386741.4:n.*40_*41insCCT
ENST00000413882.6:c.*40_*41insCCT ENSP00000410496.2:n.*40_*41insCCT
ENST00000443238.6:c.*40_*41insCCT ENSP00000409798.2:n.*40_*41insCCT
ENST00000488080.6:n.1063_1064insCCT
ENST00000650731.1:c.*40_*41insCCT ENSP00000499146.1:n.*40_*41insCCT
ENST00000650938.1:c.806_807insCCT
ENST00000651246.1:c.*40_*41insCCT ENSP00000498484.1:n.*40_*41insCCT
ENST00000651501.1:c.*867_*868insCCT ENSP00000498894.1:n.*867_*868insCCT
ENST00000651717.1:c.*696_*697insCCT ENSP00000499124.1:n.*696_*697insCCT
ENST00000652036.1:c.*40_*41insCCT ENSP00000499139.1:n.*40_*41insCCT
ENST00000295497.11:c.*40_*41insCCT ENSP00000295497.7:n.*40_*41insCCT
ENST00000409156.7:c.*40_*41insCCT ENSP00000386470.3:n.*40_*41insCCT
ENST00000409597.5:c.*40_*41insCCT ENSP00000386469.1:n.*40_*41insCCT
ENST00000409900.7:c.*40_*41insCCT ENSP00000386741.3:n.*40_*41insCCT
ENST00000488080.5:n.1271_1272insCCT
ENST00000492964.1:n.563_564insCCT
NM_001025201.3:c.*40_*41insCCT NP_001020372.2:n.*40_*41insCCT
NM_001206602.1:c.*40_*41insCCT NP_001193531.1:n.*40_*41insCCT
NM_001822.5:c.*40_*41insCCT NP_001813.1:n.*40_*41insCCT
NR_038133.1:n.1286_1287insCCT
NM_001025201.4:c.*40_*41insCCT NP_001020372.2:n.*40_*41insCCT
NM_001206602.2:c.*40_*41insCCT NP_001193531.1:n.*40_*41insCCT
NM_001371513.1:c.*40_*41insCCT NP_001358442.1:n.*40_*41insCCT
NM_001371514.1:c.*40_*41insCCT NP_001358443.1:n.*40_*41insCCT
NM_001822.7:c.*40_*41insCCT MANE Select NP_001813.1:n.*40_*41insCCT
NR_038133.2:n.1288_1289insCCT