Canonical Allele Identifier: CA540004213

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232544888_232544889del , CM000664.2:g.232544888_232544889del GRCh38
NC_000002.11:g.233409598_233409599del , CM000664.1:g.233409598_233409599del GRCh37
NC_000002.10:g.233117842_233117843del NCBI36
NG_012954.1:g.10162_10163del
NG_012954.2:g.10197_10198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*3220_*3221del (TIGD1) MANE Select ENSP00000386186.3:n.*3220_*3221del
ENST00000651502.1:c.1366_1367del (CHRNG) MANE Select ENSP00000498757.1:p.His457LeufsTer2
ENST00000389492.3:c.1210_1211del (CHRNG) ENSP00000374143.3:p.His405LeufsTer2
ENST00000389494.7:c.1366_1367del (CHRNG) ENSP00000374145.3:p.His457LeufsTer2
NM_005199.4:c.1366_1367del (CHRNG) NP_005190.4:p.His457LeufsTer2
NM_005199.5:c.1366_1367del (CHRNG) MANE Select NP_005190.4:p.His457LeufsTer2
NM_145702.4:c.*3220_*3221del (TIGD1) MANE Select NP_663748.1:n.*3220_*3221del