Canonical Allele Identifier: CA578624048
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI

Linked Data

dbSNP Id: rs1471160800
gnomAD v2: 7-141673000-T-TA
gnomAD v4: 7-141973200-T-TA
COSMIC: COSM1448678
MyVariant Identifiers: chr7:g.141673000_141673001insA (hg19) chr7:g.141973200_141973201insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973206dup , CM000669.2:g.141973206dup GRCh38
NC_000007.13:g.141673006dup , CM000669.1:g.141673006dup GRCh37
NC_000007.12:g.141319475dup NCBI36
NG_016141.1:g.5573dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27209dup (MGAM) ENSP00000419372.1:n.-3+27209dup
ENST00000547270.1:c.489dup (TAS2R38) MANE Select ENSP00000448219.1:p.Ser164Ter
NM_176817.4:c.489dup (TAS2R38) NP_789787.4:p.Ser164Ter
XM_011515783.1:c.*25-13190dup (OR9A4) XP_011514085.1:n.*25-13190dup
NM_176817.5:c.489dup (TAS2R38) MANE Select NP_789787.5:p.Ser164Ter
Search 100 bp 5'
Search 100 bp 3'