Canonical Allele Identifier: CA60852392

Gene: CHN1

Linked Data

• dbSNP Id: rs1028185909
• gnomAD v2: 2-175689097-CCTT-C
• gnomAD v3: 2-174824369-CCTT-C
• gnomAD v4: 2-174824369-CCTT-C
• MyVariant Identifiers: chr2:g.175689098_175689100del (hg19) ; chr2:g.174824370_174824372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824372_174824374del , CM000664.2:g.174824372_174824374del	GRCh38
NC_000002.11:g.175689100_175689102del , CM000664.1:g.175689100_175689102del	GRCh37
NC_000002.10:g.175397346_175397348del	NCBI36
NG_012642.1:g.186071_186073del
NG_012642.2:g.186071_186073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.337+62_337+64del	ENSP00000295497.7:n.337+62_337+64del
ENST00000444394.7:c.337+62_337+64del	ENSP00000411911.2:n.337+62_337+64del
ENST00000295497.12:c.337+62_337+64del	ENSP00000295497.7:n.337+62_337+64del
ENST00000409089.7:c.37+62_37+64del	ENSP00000386322.3:n.37+62_37+64del
ENST00000409900.9:c.712+62_712+64del MANE Select	ENSP00000386741.4:n.712+62_712+64del
ENST00000413882.6:c.166+62_166+64del	ENSP00000410496.2:n.166+62_166+64del
ENST00000425395.6:c.*159+62_*159+64del	ENSP00000405270.2:n.*159+62_*159+64del
ENST00000443238.6:c.190+62_190+64del	ENSP00000409798.2:n.190+62_190+64del
ENST00000444394.6:c.337+62_337+64del	ENSP00000411911.2:n.337+62_337+64del
ENST00000444573.2:c.556+62_556+64del	ENSP00000392603.2:n.556+62_556+64del
ENST00000488080.6:n.355+62_355+64del
ENST00000650731.1:c.37+62_37+64del	ENSP00000499146.1:n.37+62_37+64del
ENST00000650938.1:c.236+62_236+64del
ENST00000651246.1:c.304+62_304+64del	ENSP00000498484.1:n.304+62_304+64del
ENST00000651373.1:c.226+62_226+64del	ENSP00000499174.1:n.226+62_226+64del
ENST00000651501.1:c.*159+62_*159+64del	ENSP00000498894.1:n.*159+62_*159+64del
ENST00000651717.1:c.253-11890_253-11888del	ENSP00000499124.1:n.253-11890_253-11888de...
ENST00000652036.1:c.337+62_337+64del	ENSP00000499139.1:n.337+62_337+64del
ENST00000652154.1:n.610+62_610+64del
ENST00000295497.11:c.337+62_337+64del	ENSP00000295497.7:n.337+62_337+64del
ENST00000409089.6:c.37+62_37+64del	ENSP00000386322.2:n.37+62_37+64del
ENST00000409156.7:c.634+62_634+64del	ENSP00000386470.3:n.634+62_634+64del
ENST00000409597.5:c.160+62_160+64del	ENSP00000386469.1:n.160+62_160+64del
ENST00000409900.7:c.712+62_712+64del	ENSP00000386741.3:n.712+62_712+64del
ENST00000413882.5:c.166+62_166+64del	ENSP00000410496.1:n.166+62_166+64del
ENST00000425395.5:c.*263+62_*263+64del	ENSP00000405270.1:n.*263+62_*263+64del
ENST00000443238.5:c.190+62_190+64del	ENSP00000409798.1:n.190+62_190+64del
ENST00000444394.5:c.37+62_37+64del	ENSP00000411911.1:n.37+62_37+64del
ENST00000444573.1:c.337+62_337+64del	ENSP00000392603.1:n.337+62_337+64del
ENST00000485882.1:n.171+62_171+64del
ENST00000488080.5:n.563+62_563+64del
NM_001025201.3:c.634+62_634+64del	NP_001020372.2:n.634+62_634+64del
NM_001206602.1:c.337+62_337+64del	NP_001193531.1:n.337+62_337+64del
NM_001822.5:c.712+62_712+64del	NP_001813.1:n.712+62_712+64del
NR_038133.1:n.578+62_578+64del
NM_001025201.4:c.634+62_634+64del	NP_001020372.2:n.634+62_634+64del
NM_001206602.2:c.337+62_337+64del	NP_001193531.1:n.337+62_337+64del
NM_001371513.1:c.712+62_712+64del	NP_001358442.1:n.712+62_712+64del
NM_001371514.1:c.763+62_763+64del	NP_001358443.1:n.763+62_763+64del
NM_001822.7:c.712+62_712+64del MANE Select	NP_001813.1:n.712+62_712+64del
NR_038133.2:n.580+62_580+64del