Canonical Allele Identifier: CA2534785278

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973509_141973510insATGGATGATTGCAAACCAA , CM000669.2:g.141973509_141973510insATGGATGATTGCAAACCAA GRCh38
NC_000007.13:g.141673309_141673310insATGGATGATTGCAAACCAA , CM000669.1:g.141673309_141673310insATGGATGATTGCAAACCAA GRCh37
NC_000007.12:g.141319778_141319779insATGGATGATTGCAAACCAA NCBI36
NG_016141.1:g.5264_5265insTTGGTTTGCAATCATCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27512_-3+27513insATGGATGATTGCAAACCAA (MGAM) ENSP00000419372.1:n.-3+27512_-3+27513insATGGATGATTGCAAACCAA
ENST00000547270.1:c.180_181insTTGGTTTGCAATCATCCAT (TAS2R38) MANE Select ENSP00000448219.1:p.Ser61LeufsTer7
NM_176817.4:c.180_181insTTGGTTTGCAATCATCCAT (TAS2R38) NP_789787.4:p.Ser61LeufsTer7
XM_011515783.1:c.*25-12887_*25-12886insATGGATGATTGCAAACCAA (OR9A4) XP_011514085.1:n.*25-12887_*25-12886insATGGATGATTGCAAACCAA
NM_176817.5:c.180_181insTTGGTTTGCAATCATCCAT (TAS2R38) MANE Select NP_789787.5:p.Ser61LeufsTer7