Canonical Allele Identifier: CA2662021917

Gene: CHN1

Linked Data

• gnomAD v4: 2-174799973-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799978_174799980del , CM000664.2:g.174799978_174799980del	GRCh38
NC_000002.11:g.175664706_175664708del , CM000664.1:g.175664706_175664708del	GRCh37
NC_000002.10:g.175372952_175372954del	NCBI36
NG_012642.1:g.210467_210469del
NG_012642.2:g.210467_210469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*140_*142del	ENSP00000295497.7:n.*140_*142del
ENST00000295497.12:c.*140_*142del	ENSP00000295497.7:n.*140_*142del
ENST00000409900.9:c.*140_*142del MANE Select	ENSP00000386741.4:n.*140_*142del
ENST00000413882.6:c.*140_*142del	ENSP00000410496.2:n.*140_*142del
ENST00000443238.6:c.*140_*142del	ENSP00000409798.2:n.*140_*142del
ENST00000488080.6:n.1163_1165del
ENST00000650731.1:c.*140_*142del	ENSP00000499146.1:n.*140_*142del
ENST00000650938.1:c.906_908del
ENST00000651246.1:c.*140_*142del	ENSP00000498484.1:n.*140_*142del
ENST00000651501.1:c.*967_*969del	ENSP00000498894.1:n.*967_*969del
ENST00000651717.1:c.*796_*798del	ENSP00000499124.1:n.*796_*798del
ENST00000652036.1:c.*140_*142del	ENSP00000499139.1:n.*140_*142del
ENST00000295497.11:c.*140_*142del	ENSP00000295497.7:n.*140_*142del
ENST00000409597.5:c.*140_*142del	ENSP00000386469.1:n.*140_*142del
ENST00000409900.7:c.*140_*142del	ENSP00000386741.3:n.*140_*142del
ENST00000488080.5:n.1371_1373del
ENST00000492964.1:n.663_665del
NM_001025201.3:c.*140_*142del	NP_001020372.2:n.*140_*142del
NM_001206602.1:c.*140_*142del	NP_001193531.1:n.*140_*142del
NM_001822.5:c.*140_*142del	NP_001813.1:n.*140_*142del
NR_038133.1:n.1386_1388del
NM_001025201.4:c.*140_*142del	NP_001020372.2:n.*140_*142del
NM_001206602.2:c.*140_*142del	NP_001193531.1:n.*140_*142del
NM_001371513.1:c.*140_*142del	NP_001358442.1:n.*140_*142del
NM_001371514.1:c.*140_*142del	NP_001358443.1:n.*140_*142del
NM_001822.7:c.*140_*142del MANE Select	NP_001813.1:n.*140_*142del
NR_038133.2:n.1388_1390del