Canonical Allele Identifier: CA766148111
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1346697530
gnomAD v3: 2-232546306-CTCT-C
gnomAD v4: 2-232546306-CTCT-C
MyVariant Identifiers: chr2:g.233411017_233411019del (hg19) chr2:g.232546307_232546309del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546308_232546310del , CM000664.2:g.232546308_232546310del GRCh38
NC_000002.11:g.233411018_233411020del , CM000664.1:g.233411018_233411020del GRCh37
NC_000002.10:g.233119262_233119264del NCBI36
NG_012954.1:g.11582_11584del
NG_012954.2:g.11617_11619del

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*1798_*1800del (TIGD1) MANE Select ENSP00000386186.3:n.*1798_*1800del
ENST00000651502.1:c.*592_*594del (CHRNG) MANE Select ENSP00000498757.1:n.*592_*594del
ENST00000389494.7:c.*592_*594del (CHRNG) ENSP00000374145.3:n.*592_*594del
NM_005199.4:c.*592_*594del (CHRNG) NP_005190.4:n.*592_*594del
NM_005199.5:c.*592_*594del (CHRNG) MANE Select NP_005190.4:n.*592_*594del
NM_145702.4:c.*1798_*1800del (TIGD1) MANE Select NP_663748.1:n.*1798_*1800del
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