Canonical Allele Identifier: CA2662021794

Gene: CHN1

Linked Data

• gnomAD v4: 2-174799556-T-TAGTACTTTCTTTCCAGCAAAAGCAAAATGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799556_174799557insAGTACTTTCTTTCCAGCAAAAGCAAAATGTG , CM000664.2:g.174799556_174799557insAGTACTTTCTTTCCAGCAAAAGCAAAATGTG	GRCh38
NC_000002.11:g.175664284_175664285insAGTACTTTCTTTCCAGCAAAAGCAAAATGTG , CM000664.1:g.175664284_175664285insAGTACTTTCTTTCCAGCAAAAGCAAAATGTG	GRCh37
NC_000002.10:g.175372530_175372531insAGTACTTTCTTTCCAGCAAAAGCAAAATGTG	NCBI36
NG_012642.1:g.210886_210887insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NG_012642.2:g.210886_210887insCACATTTTGCTTTTGCTGGAAAGAAAGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000295497.7:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000295497.12:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000295497.7:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000409900.9:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT MANE Select	ENSP00000386741.4:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000443238.6:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000409798.2:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000488080.6:n.1582_1583insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
ENST00000650731.1:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000499146.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000650938.1:c.1325_1326insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
ENST00000651501.1:c.*1386_*1387insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000498894.1:n.*1386_*1387insCACATTTTGCTTTTGCTGGAAAGAAAG...
ENST00000651717.1:c.*1215_*1216insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000499124.1:n.*1215_*1216insCACATTTTGCTTTTGCTGGAAAGAAAG...
ENST00000652036.1:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000499139.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000295497.11:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000295497.7:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000409597.5:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000386469.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000409900.7:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	ENSP00000386741.3:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTA...
ENST00000488080.5:n.1790_1791insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001025201.3:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001020372.2:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001206602.1:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001193531.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001822.5:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001813.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NR_038133.1:n.1805_1806insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001025201.4:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001020372.2:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001206602.2:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001193531.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001371513.1:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001358442.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001371514.1:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT	NP_001358443.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NM_001822.7:c.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT MANE Select	NP_001813.1:n.*559_*560insCACATTTTGCTTTTGCTGGAAAGAAAGTACT
NR_038133.2:n.1807_1808insCACATTTTGCTTTTGCTGGAAAGAAAGTACT