Canonical Allele Identifier: CA869277796
Gene: TNMD HGNC NCBI

Linked Data

dbSNP Id: rs1394753707
gnomAD v3: X-100598283-TC-T
gnomAD v4: X-100598283-TC-T
MyVariant Identifiers: chrX:g.99853281del (hg19) chrX:g.100598284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598284del , CM000685.2:g.100598284del GRCh38
NC_000023.10:g.99853281del , CM000685.1:g.99853281del GRCh37
NC_000023.9:g.99739937del NCBI36
NG_013266.1:g.18492del
NG_013266.2:g.18492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.577+627del MANE Select ENSP00000362122.4:n.577+627del
ENST00000373031.4:c.577+627del ENSP00000362122.4:n.577+627del
NM_022144.2:c.577+627del NP_071427.2:n.577+627del
XM_005262175.3:c.388+627del XP_005262232.1:n.388+627del
XM_005262176.1:c.577+627del XP_005262233.1:n.577+627del
XM_011531008.1:c.388+627del XP_011529310.1:n.388+627del
XM_011531009.1:c.388+627del XP_011529311.1:n.388+627del
XM_011531010.1:c.388+627del XP_011529312.1:n.388+627del
NM_022144.3:c.577+627del MANE Select NP_071427.2:n.577+627del
Search 100 bp 5'
Search 100 bp 3'