Canonical Allele Identifier: CA1308854872

Gene: CHN1

Linked Data

• dbSNP Id: rs1684670856
• gnomAD v4: 2-174800116-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800123_174800127del , CM000664.2:g.174800123_174800127del	GRCh38
NC_000002.11:g.175664851_175664855del , CM000664.1:g.175664851_175664855del	GRCh37
NC_000002.10:g.175373097_175373101del	NCBI36
NG_012642.1:g.210322_210326del
NG_012642.2:g.210322_210326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1000_1004del	ENSP00000295497.7:p.Phe334AsnfsTer3
ENST00000295497.12:c.1000_1004del	ENSP00000295497.7:p.Phe334AsnfsTer3
ENST00000409900.9:c.1375_1379del MANE Select	ENSP00000386741.4:p.Phe459AsnfsTer3
ENST00000413882.6:c.829_833del	ENSP00000410496.2:p.Phe277AsnfsTer3
ENST00000443238.6:c.853_857del	ENSP00000409798.2:p.Phe285AsnfsTer3
ENST00000488080.6:n.1018_1022del
ENST00000650731.1:c.700_704del	ENSP00000499146.1:p.Phe234AsnfsTer3
ENST00000650938.1:c.761_765del
ENST00000651246.1:c.967_971del	ENSP00000498484.1:p.Phe323AsnfsTer3
ENST00000651501.1:c.*822_*826del	ENSP00000498894.1:n.*822_*826del
ENST00000651717.1:c.*651_*655del	ENSP00000499124.1:n.*651_*655del
ENST00000652036.1:c.1051_1055del	ENSP00000499139.1:p.Phe351AsnfsTer3
ENST00000295497.11:c.1000_1004del	ENSP00000295497.7:p.Phe334AsnfsTer3
ENST00000409156.7:c.1297_1301del	ENSP00000386470.3:p.Phe433AsnfsTer3
ENST00000409597.5:c.823_827del	ENSP00000386469.1:p.Phe275AsnfsTer3
ENST00000409900.7:c.1375_1379del	ENSP00000386741.3:p.Phe459AsnfsTer3
ENST00000488080.5:n.1226_1230del
ENST00000492964.1:n.518_522del
NM_001025201.3:c.1297_1301del	NP_001020372.2:p.Phe433AsnfsTer3
NM_001206602.1:c.1000_1004del	NP_001193531.1:p.Phe334AsnfsTer3
NM_001822.5:c.1375_1379del	NP_001813.1:p.Phe459AsnfsTer3
NR_038133.1:n.1241_1245del
NM_001025201.4:c.1297_1301del	NP_001020372.2:p.Phe433AsnfsTer3
NM_001206602.2:c.1000_1004del	NP_001193531.1:p.Phe334AsnfsTer3
NM_001371513.1:c.1375_1379del	NP_001358442.1:p.Phe459AsnfsTer3
NM_001371514.1:c.1426_1430del	NP_001358443.1:p.Phe476AsnfsTer3
NM_001822.7:c.1375_1379del MANE Select	NP_001813.1:p.Phe459AsnfsTer3
NR_038133.2:n.1243_1247del