Canonical Allele Identifier: CA1043464140
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1553578776
gnomAD v3: 2-232546306-C-CTTT
gnomAD v4: 2-232546306-C-CTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546307_232546308insTTT , CM000664.2:g.232546307_232546308insTTT GRCh38
NC_000002.11:g.233411017_233411018insTTT , CM000664.1:g.233411017_233411018insTTT GRCh37
NC_000002.10:g.233119261_233119262insTTT NCBI36
NG_012954.1:g.11581_11582insTTT
NG_012954.2:g.11616_11617insTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*1800_*1801insAAA (TIGD1) MANE Select ENSP00000386186.3:n.*1800_*1801insAAA
ENST00000651502.1:c.*591_*592insTTT (CHRNG) MANE Select ENSP00000498757.1:n.*591_*592insTTT
ENST00000389494.7:c.*591_*592insTTT (CHRNG) ENSP00000374145.3:n.*591_*592insTTT
NM_005199.4:c.*591_*592insTTT (CHRNG) NP_005190.4:n.*591_*592insTTT
NM_005199.5:c.*591_*592insTTT (CHRNG) MANE Select NP_005190.4:n.*591_*592insTTT
NM_145702.4:c.*1800_*1801insAAA (TIGD1) MANE Select NP_663748.1:n.*1800_*1801insAAA
Search 100 bp 5'
Search 100 bp 3'