Canonical Allele Identifier: CA1748244477

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972942_141972944delinsCAA , CM000669.2:g.141972942_141972944delinsCAA GRCh38
NC_000007.13:g.141672742_141672744delinsCAA , CM000669.1:g.141672742_141672744delinsCAA GRCh37
NC_000007.12:g.141319211_141319213delinsCAA NCBI36
NG_016141.1:g.5830_5832delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+26945_-3+26947delinsCAA (MGAM) ENSP00000419372.1:n.-3+26945_-3+26947delinsCAA
ENST00000547270.1:c.746_748delinsTTG (TAS2R38) MANE Select ENSP00000448219.1:p.Leu249=
NM_176817.4:c.746_748delinsTTG (TAS2R38) NP_789787.4:p.Leu249=
XM_011515783.1:c.*25-13454_*25-13452delinsCAA (OR9A4) XP_011514085.1:n.*25-13454_*25-13452delinsCAA
NM_176817.5:c.746_748delinsTTG (TAS2R38) MANE Select NP_789787.5:p.Leu249=