Canonical Allele Identifier: CA766148193

Linked Data

dbSNP Id: rs71398725

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546308_232546309insCT , CM000664.2:g.232546308_232546309insCT GRCh38
NC_000002.11:g.233411018_233411019insCT , CM000664.1:g.233411018_233411019insCT GRCh37
NC_000002.10:g.233119262_233119263insCT NCBI36
NG_012954.1:g.11582_11583insCT
NG_012954.2:g.11617_11618insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*1798_*1799insAG (TIGD1) MANE Select ENSP00000386186.3:n.*1798_*1799insAG
ENST00000651502.1:c.*592_*593insCT (CHRNG) MANE Select ENSP00000498757.1:n.*592_*593insCT
ENST00000389494.7:c.*592_*593insCT (CHRNG) ENSP00000374145.3:n.*592_*593insCT
NM_005199.4:c.*592_*593insCT (CHRNG) NP_005190.4:n.*592_*593insCT
NM_005199.5:c.*592_*593insCT (CHRNG) MANE Select NP_005190.4:n.*592_*593insCT
NM_145702.4:c.*1798_*1799insAG (TIGD1) MANE Select NP_663748.1:n.*1798_*1799insAG