Canonical Allele Identifier: CA2701089425

Gene: CHN1

Linked Data

• dbSNP Id: rs2105368563

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799864_174799865del , CM000664.2:g.174799864_174799865del	GRCh38
NC_000002.11:g.175664592_175664593del , CM000664.1:g.175664592_175664593del	GRCh37
NC_000002.10:g.175372838_175372839del	NCBI36
NG_012642.1:g.210578_210579del
NG_012642.2:g.210578_210579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*251_*252del	ENSP00000295497.7:n.*251_*252del
ENST00000295497.12:c.*251_*252del	ENSP00000295497.7:n.*251_*252del
ENST00000409900.9:c.*251_*252del MANE Select	ENSP00000386741.4:n.*251_*252del
ENST00000413882.6:c.*251_*252del	ENSP00000410496.2:n.*251_*252del
ENST00000443238.6:c.*251_*252del	ENSP00000409798.2:n.*251_*252del
ENST00000488080.6:n.1274_1275del
ENST00000650731.1:c.*251_*252del	ENSP00000499146.1:n.*251_*252del
ENST00000650938.1:c.1017_1018del
ENST00000651246.1:c.*251_*252del	ENSP00000498484.1:n.*251_*252del
ENST00000651501.1:c.*1078_*1079del	ENSP00000498894.1:n.*1078_*1079del
ENST00000651717.1:c.*907_*908del	ENSP00000499124.1:n.*907_*908del
ENST00000652036.1:c.*251_*252del	ENSP00000499139.1:n.*251_*252del
ENST00000295497.11:c.*251_*252del	ENSP00000295497.7:n.*251_*252del
ENST00000409597.5:c.*251_*252del	ENSP00000386469.1:n.*251_*252del
ENST00000409900.7:c.*251_*252del	ENSP00000386741.3:n.*251_*252del
ENST00000488080.5:n.1482_1483del
NM_001025201.3:c.*251_*252del	NP_001020372.2:n.*251_*252del
NM_001206602.1:c.*251_*252del	NP_001193531.1:n.*251_*252del
NM_001822.5:c.*251_*252del	NP_001813.1:n.*251_*252del
NR_038133.1:n.1497_1498del
NM_001025201.4:c.*251_*252del	NP_001020372.2:n.*251_*252del
NM_001206602.2:c.*251_*252del	NP_001193531.1:n.*251_*252del
NM_001371513.1:c.*251_*252del	NP_001358442.1:n.*251_*252del
NM_001371514.1:c.*251_*252del	NP_001358443.1:n.*251_*252del
NM_001822.7:c.*251_*252del MANE Select	NP_001813.1:n.*251_*252del
NR_038133.2:n.1499_1500del