Canonical Allele Identifier: CA1135834050
Gene: TNMD HGNC NCBI

Linked Data

gnomAD v3: X-100598224-CT-C
gnomAD v4: X-100598224-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598226del , CM000685.2:g.100598226del GRCh38
NC_000023.10:g.99853223del , CM000685.1:g.99853223del GRCh37
NC_000023.9:g.99739879del NCBI36
NG_013266.1:g.18434del
NG_013266.2:g.18434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.577+569del MANE Select ENSP00000362122.4:n.577+569del
ENST00000373031.4:c.577+569del ENSP00000362122.4:n.577+569del
NM_022144.2:c.577+569del NP_071427.2:n.577+569del
XM_005262175.3:c.388+569del XP_005262232.1:n.388+569del
XM_005262176.1:c.577+569del XP_005262233.1:n.577+569del
XM_011531008.1:c.388+569del XP_011529310.1:n.388+569del
XM_011531009.1:c.388+569del XP_011529311.1:n.388+569del
XM_011531010.1:c.388+569del XP_011529312.1:n.388+569del
NM_022144.3:c.577+569del MANE Select NP_071427.2:n.577+569del
Search 100 bp 5'
Search 100 bp 3'