Canonical Allele Identifier: CA2753244836

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800104_174800105del , CM000664.2:g.174800104_174800105del	GRCh38
NC_000002.11:g.175664832_175664833del , CM000664.1:g.175664832_175664833del	GRCh37
NC_000002.10:g.175373078_175373079del	NCBI36
NG_012642.1:g.210338_210339del
NG_012642.2:g.210338_210339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*11_*12del	ENSP00000295497.7:n.*11_*12del
ENST00000295497.12:c.*11_*12del	ENSP00000295497.7:n.*11_*12del
ENST00000409900.9:c.*11_*12del MANE Select	ENSP00000386741.4:n.*11_*12del
ENST00000413882.6:c.*11_*12del	ENSP00000410496.2:n.*11_*12del
ENST00000443238.6:c.*11_*12del	ENSP00000409798.2:n.*11_*12del
ENST00000488080.6:n.1034_1035del
ENST00000650731.1:c.*11_*12del	ENSP00000499146.1:n.*11_*12del
ENST00000650938.1:c.777_778del
ENST00000651246.1:c.*11_*12del	ENSP00000498484.1:n.*11_*12del
ENST00000651501.1:c.*838_*839del	ENSP00000498894.1:n.*838_*839del
ENST00000651717.1:c.*667_*668del	ENSP00000499124.1:n.*667_*668del
ENST00000652036.1:c.*11_*12del	ENSP00000499139.1:n.*11_*12del
ENST00000295497.11:c.*11_*12del	ENSP00000295497.7:n.*11_*12del
ENST00000409156.7:c.*11_*12del	ENSP00000386470.3:n.*11_*12del
ENST00000409597.5:c.*11_*12del	ENSP00000386469.1:n.*11_*12del
ENST00000409900.7:c.*11_*12del	ENSP00000386741.3:n.*11_*12del
ENST00000488080.5:n.1242_1243del
ENST00000492964.1:n.534_535del
NM_001025201.3:c.*11_*12del	NP_001020372.2:n.*11_*12del
NM_001206602.1:c.*11_*12del	NP_001193531.1:n.*11_*12del
NM_001822.5:c.*11_*12del	NP_001813.1:n.*11_*12del
NR_038133.1:n.1257_1258del
NM_001025201.4:c.*11_*12del	NP_001020372.2:n.*11_*12del
NM_001206602.2:c.*11_*12del	NP_001193531.1:n.*11_*12del
NM_001371513.1:c.*11_*12del	NP_001358442.1:n.*11_*12del
NM_001371514.1:c.*11_*12del	NP_001358443.1:n.*11_*12del
NM_001822.7:c.*11_*12del MANE Select	NP_001813.1:n.*11_*12del
NR_038133.2:n.1259_1260del