Canonical Allele Identifier: CA2681939694
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117226-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117228del , CM000669.2:g.19117228del GRCh38
NC_000007.13:g.19156851del , CM000669.1:g.19156851del GRCh37
NC_000007.12:g.19123376del NCBI36
NG_008114.1:g.5446del
NG_008114.2:g.5446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.95del MANE Select ENSP00000242261.5:p.Gly32AlafsTer?
ENST00000242261.5:c.95del ENSP00000242261.5:p.Gly32AlafsTer?
NM_000474.3:c.95del NP_000465.1:p.Gly32AlafsTer?
XM_011515496.1:c.95del XP_011513798.1:p.Gly32AlafsTer?
NR_149001.1:n.446del
NM_000474.4:c.95del MANE Select NP_000465.1:p.Gly32AlafsTer?
NR_149001.2:n.410del
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Search 100 bp 3'