Canonical Allele Identifier: CA537762367

Gene: CHN1

Linked Data

• dbSNP Id: rs1332219595
• gnomAD v2: 2-175664153-TTAA-T
• gnomAD v4: 2-174799425-TTAA-T
• MyVariant Identifiers: chr2:g.175664154_175664156del (hg19) ; chr2:g.174799426_174799428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799429_174799431del , CM000664.2:g.174799429_174799431del	GRCh38
NC_000002.11:g.175664157_175664159del , CM000664.1:g.175664157_175664159del	GRCh37
NC_000002.10:g.175372403_175372405del	NCBI36
NG_012642.1:g.211015_211017del
NG_012642.2:g.211015_211017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*688_*690del	ENSP00000295497.7:n.*688_*690del
ENST00000295497.12:c.*688_*690del	ENSP00000295497.7:n.*688_*690del
ENST00000409900.9:c.*688_*690del MANE Select	ENSP00000386741.4:n.*688_*690del
ENST00000443238.6:c.*688_*690del	ENSP00000409798.2:n.*688_*690del
ENST00000652036.1:c.*688_*690del	ENSP00000499139.1:n.*688_*690del
ENST00000409900.7:c.*688_*690del	ENSP00000386741.3:n.*688_*690del
NM_001025201.3:c.*688_*690del	NP_001020372.2:n.*688_*690del
NM_001206602.1:c.*688_*690del	NP_001193531.1:n.*688_*690del
NM_001822.5:c.*688_*690del	NP_001813.1:n.*688_*690del
NR_038133.1:n.1934_1936del
NM_001025201.4:c.*688_*690del	NP_001020372.2:n.*688_*690del
NM_001206602.2:c.*688_*690del	NP_001193531.1:n.*688_*690del
NM_001371513.1:c.*688_*690del	NP_001358442.1:n.*688_*690del
NM_001371514.1:c.*688_*690del	NP_001358443.1:n.*688_*690del
NM_001822.7:c.*688_*690del MANE Select	NP_001813.1:n.*688_*690del
NR_038133.2:n.1936_1938del