Canonical Allele Identifier: CA2662021986

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800128-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800131_174800133del , CM000664.2:g.174800131_174800133del	GRCh38
NC_000002.11:g.175664859_175664861del , CM000664.1:g.175664859_175664861del	GRCh37
NC_000002.10:g.175373105_175373107del	NCBI36
NG_012642.1:g.210312_210314del
NG_012642.2:g.210312_210314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.990_992del	ENSP00000295497.7:p.Glu330del
ENST00000295497.12:c.990_992del	ENSP00000295497.7:p.Glu330del
ENST00000409900.9:c.1365_1367del MANE Select	ENSP00000386741.4:p.Glu455del
ENST00000413882.6:c.819_821del	ENSP00000410496.2:p.Glu273del
ENST00000443238.6:c.843_845del	ENSP00000409798.2:p.Glu281del
ENST00000488080.6:n.1008_1010del
ENST00000650731.1:c.690_692del	ENSP00000499146.1:p.Glu230del
ENST00000650938.1:c.751_753del
ENST00000651246.1:c.957_959del	ENSP00000498484.1:p.Glu319del
ENST00000651501.1:c.*812_*814del	ENSP00000498894.1:n.*812_*814del
ENST00000651717.1:c.*641_*643del	ENSP00000499124.1:n.*641_*643del
ENST00000652036.1:c.1041_1043del	ENSP00000499139.1:p.Glu347del
ENST00000295497.11:c.990_992del	ENSP00000295497.7:p.Glu330del
ENST00000409156.7:c.1287_1289del	ENSP00000386470.3:p.Glu429del
ENST00000409597.5:c.813_815del	ENSP00000386469.1:p.Glu271del
ENST00000409900.7:c.1365_1367del	ENSP00000386741.3:p.Glu455del
ENST00000488080.5:n.1216_1218del
ENST00000492964.1:n.508_510del
NM_001025201.3:c.1287_1289del	NP_001020372.2:p.Glu429del
NM_001206602.1:c.990_992del	NP_001193531.1:p.Glu330del
NM_001822.5:c.1365_1367del	NP_001813.1:p.Glu455del
NR_038133.1:n.1231_1233del
NM_001025201.4:c.1287_1289del	NP_001020372.2:p.Glu429del
NM_001206602.2:c.990_992del	NP_001193531.1:p.Glu330del
NM_001371513.1:c.1365_1367del	NP_001358442.1:p.Glu455del
NM_001371514.1:c.1416_1418del	NP_001358443.1:p.Glu472del
NM_001822.7:c.1365_1367del MANE Select	NP_001813.1:p.Glu455del
NR_038133.2:n.1233_1235del