Canonical Allele Identifier: CA60837686

Gene: CHN1

Linked Data

• dbSNP Id: rs946954947
• gnomAD v2: 2-175664268-CAA-C
• gnomAD v4: 2-174799540-CAA-C
• MyVariant Identifiers: chr2:g.175664269_175664270del (hg19) ; chr2:g.174799541_174799542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799542_174799543del , CM000664.2:g.174799542_174799543del	GRCh38
NC_000002.11:g.175664270_175664271del , CM000664.1:g.175664270_175664271del	GRCh37
NC_000002.10:g.175372516_175372517del	NCBI36
NG_012642.1:g.210901_210902del
NG_012642.2:g.210901_210902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*574_*575del	ENSP00000295497.7:n.*574_*575del
ENST00000295497.12:c.*574_*575del	ENSP00000295497.7:n.*574_*575del
ENST00000409900.9:c.*574_*575del MANE Select	ENSP00000386741.4:n.*574_*575del
ENST00000443238.6:c.*574_*575del	ENSP00000409798.2:n.*574_*575del
ENST00000488080.6:n.1597_1598del
ENST00000650731.1:c.*574_*575del	ENSP00000499146.1:n.*574_*575del
ENST00000650938.1:c.1340_1341del
ENST00000651501.1:c.*1401_*1402del	ENSP00000498894.1:n.*1401_*1402del
ENST00000651717.1:c.*1230_*1231del	ENSP00000499124.1:n.*1230_*1231del
ENST00000652036.1:c.*574_*575del	ENSP00000499139.1:n.*574_*575del
ENST00000295497.11:c.*574_*575del	ENSP00000295497.7:n.*574_*575del
ENST00000409597.5:c.*574_*575del	ENSP00000386469.1:n.*574_*575del
ENST00000409900.7:c.*574_*575del	ENSP00000386741.3:n.*574_*575del
ENST00000488080.5:n.1805_1806del
NM_001025201.3:c.*574_*575del	NP_001020372.2:n.*574_*575del
NM_001206602.1:c.*574_*575del	NP_001193531.1:n.*574_*575del
NM_001822.5:c.*574_*575del	NP_001813.1:n.*574_*575del
NR_038133.1:n.1820_1821del
NM_001025201.4:c.*574_*575del	NP_001020372.2:n.*574_*575del
NM_001206602.2:c.*574_*575del	NP_001193531.1:n.*574_*575del
NM_001371513.1:c.*574_*575del	NP_001358442.1:n.*574_*575del
NM_001371514.1:c.*574_*575del	NP_001358443.1:n.*574_*575del
NM_001822.7:c.*574_*575del MANE Select	NP_001813.1:n.*574_*575del
NR_038133.2:n.1822_1823del