Allele Registry

Canonical Allele Identifier: CA60837892

Gene: CHN1 HGNC NCBI

Linked Data

dbSNP Id: rs769316628

MyVariant Identifiers: chr2:g.175664773_175664775del (hg19) chr2:g.174800045_174800047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800047_174800049del , CM000664.2:g.174800047_174800049del	GRCh38
NC_000002.11:g.175664775_175664777del , CM000664.1:g.175664775_175664777del	GRCh37
NC_000002.10:g.175373021_175373023del	NCBI36
NG_012642.1:g.210396_210398del
NG_012642.2:g.210396_210398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.69_71del	ENSP00000295497.7:n.69_71del
ENST00000295497.12:c.69_71del	ENSP00000295497.7:n.69_71del
ENST00000409900.9:c.69_71del MANE Select	ENSP00000386741.4:n.69_71del
ENST00000413882.6:c.69_71del	ENSP00000410496.2:n.69_71del
ENST00000443238.6:c.69_71del	ENSP00000409798.2:n.69_71del
ENST00000488080.6:n.1092_1094del
ENST00000650731.1:c.69_71del	ENSP00000499146.1:n.69_71del
ENST00000650938.1:c.835_837del
ENST00000651246.1:c.69_71del	ENSP00000498484.1:n.69_71del
ENST00000651501.1:c.896_898del	ENSP00000498894.1:n.896_898del
ENST00000651717.1:c.725_727del	ENSP00000499124.1:n.725_727del
ENST00000652036.1:c.69_71del	ENSP00000499139.1:n.69_71del
ENST00000295497.11:c.69_71del	ENSP00000295497.7:n.69_71del
ENST00000409156.7:c.69_71del	ENSP00000386470.3:n.69_71del
ENST00000409597.5:c.69_71del	ENSP00000386469.1:n.69_71del
ENST00000409900.7:c.69_71del	ENSP00000386741.3:n.69_71del
ENST00000488080.5:n.1300_1302del
ENST00000492964.1:n.592_594del
NM_001025201.3:c.69_71del	NP_001020372.2:n.69_71del
NM_001206602.1:c.69_71del	NP_001193531.1:n.69_71del
NM_001822.5:c.69_71del	NP_001813.1:n.69_71del
NR_038133.1:n.1315_1317del
NM_001025201.4:c.69_71del	NP_001020372.2:n.69_71del
NM_001206602.2:c.69_71del	NP_001193531.1:n.69_71del
NM_001371513.1:c.69_71del	NP_001358442.1:n.69_71del
NM_001371514.1:c.69_71del	NP_001358443.1:n.69_71del
NM_001822.7:c.69_71del MANE Select	NP_001813.1:n.69_71del
NR_038133.2:n.1317_1319del

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