Canonical Allele Identifier: CA2578839882
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117064-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117066del , CM000669.2:g.19117066del GRCh38
NC_000007.13:g.19156689del , CM000669.1:g.19156689del GRCh37
NC_000007.12:g.19123214del NCBI36
NG_008114.1:g.5608del
NG_008114.2:g.5608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.257del MANE Select ENSP00000242261.5:p.Gly86AlafsTer?
ENST00000242261.5:c.257del ENSP00000242261.5:p.Gly86AlafsTer?
ENST00000354571.5:c.54del
NM_000474.3:c.257del NP_000465.1:p.Gly86AlafsTer?
XM_011515496.1:c.257del XP_011513798.1:p.Gly86AlafsTer?
NR_149001.1:n.608del
NM_000474.4:c.257del MANE Select NP_000465.1:p.Gly86AlafsTer?
NR_149001.2:n.572del
Search 100 bp 5'
Search 100 bp 3'