Canonical Allele Identifier: CA2662021980

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800091-TTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800094_174800096del , CM000664.2:g.174800094_174800096del	GRCh38
NC_000002.11:g.175664822_175664824del , CM000664.1:g.175664822_175664824del	GRCh37
NC_000002.10:g.175373068_175373070del	NCBI36
NG_012642.1:g.210349_210351del
NG_012642.2:g.210349_210351del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*22_*24del	ENSP00000295497.7:n.*22_*24del
ENST00000295497.12:c.*22_*24del	ENSP00000295497.7:n.*22_*24del
ENST00000409900.9:c.*22_*24del MANE Select	ENSP00000386741.4:n.*22_*24del
ENST00000413882.6:c.*22_*24del	ENSP00000410496.2:n.*22_*24del
ENST00000443238.6:c.*22_*24del	ENSP00000409798.2:n.*22_*24del
ENST00000488080.6:n.1045_1047del
ENST00000650731.1:c.*22_*24del	ENSP00000499146.1:n.*22_*24del
ENST00000650938.1:c.788_790del
ENST00000651246.1:c.*22_*24del	ENSP00000498484.1:n.*22_*24del
ENST00000651501.1:c.*849_*851del	ENSP00000498894.1:n.*849_*851del
ENST00000651717.1:c.*678_*680del	ENSP00000499124.1:n.*678_*680del
ENST00000652036.1:c.*22_*24del	ENSP00000499139.1:n.*22_*24del
ENST00000295497.11:c.*22_*24del	ENSP00000295497.7:n.*22_*24del
ENST00000409156.7:c.*22_*24del	ENSP00000386470.3:n.*22_*24del
ENST00000409597.5:c.*22_*24del	ENSP00000386469.1:n.*22_*24del
ENST00000409900.7:c.*22_*24del	ENSP00000386741.3:n.*22_*24del
ENST00000488080.5:n.1253_1255del
ENST00000492964.1:n.545_547del
NM_001025201.3:c.*22_*24del	NP_001020372.2:n.*22_*24del
NM_001206602.1:c.*22_*24del	NP_001193531.1:n.*22_*24del
NM_001822.5:c.*22_*24del	NP_001813.1:n.*22_*24del
NR_038133.1:n.1268_1270del
NM_001025201.4:c.*22_*24del	NP_001020372.2:n.*22_*24del
NM_001206602.2:c.*22_*24del	NP_001193531.1:n.*22_*24del
NM_001371513.1:c.*22_*24del	NP_001358442.1:n.*22_*24del
NM_001371514.1:c.*22_*24del	NP_001358443.1:n.*22_*24del
NM_001822.7:c.*22_*24del MANE Select	NP_001813.1:n.*22_*24del
NR_038133.2:n.1270_1272del