Canonical Allele Identifier: CA10614606
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 335028
ClinVar RCV Id: RCV000334974
dbSNP Id: rs57021172
gnomAD v2: 2-233411018-C-CTTTT
gnomAD v3: 2-232546308-C-CTTTT
gnomAD v4: 2-232546308-C-CTTTT
MyVariant Identifiers: chr2:g.233411032_233411035dupTTTT (hg19) chr2:g.233411018_233411019insTTTT (hg19) chr2:g.232546322_232546325dupTTTT (hg38) chr2:g.232546308_232546309insTTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546325_232546328dup , CM000664.2:g.232546325_232546328dup GRCh38
NC_000002.11:g.233411035_233411038dup , CM000664.1:g.233411035_233411038dup GRCh37
NC_000002.10:g.233119279_233119282dup NCBI36
NG_012954.1:g.11599_11602dup
NG_012954.2:g.11634_11637dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*1795_*1798dup (TIGD1) MANE Select ENSP00000386186.3:n.*1795_*1798dup
ENST00000651502.1:c.*609_*612dup (CHRNG) MANE Select ENSP00000498757.1:n.*609_*612dup
ENST00000389494.7:c.*609_*612dup (CHRNG) ENSP00000374145.3:n.*609_*612dup
NM_005199.5:c.*609_*612dup (CHRNG) MANE Select NP_005190.4:n.*609_*612dup
NM_145702.4:c.*1795_*1798dup (TIGD1) MANE Select NP_663748.1:n.*1795_*1798dup
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Search 100 bp 3'