Canonical Allele Identifier: CA2681939341
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116723-GCGGACATGGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116725_19116734del , CM000669.2:g.19116725_19116734del GRCh38
NC_000007.13:g.19156348_19156357del , CM000669.1:g.19156348_19156357del GRCh37
NC_000007.12:g.19122873_19122882del NCBI36
NG_008114.1:g.5940_5949del
NG_008114.2:g.5940_5949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.589_598del MANE Select ENSP00000242261.5:p.Ser197ArgfsTer?
ENST00000242261.5:c.589_598del ENSP00000242261.5:p.Ser197ArgfsTer?
ENST00000354571.5:c.386_395del
ENST00000443687.5:c.192_201del
NM_000474.3:c.589_598del NP_000465.1:p.Ser197ArgfsTer?
XM_011515496.1:c.589_598del XP_011513798.1:p.Ser197ArgfsTer?
NR_149001.1:n.940_949del
NM_000474.4:c.589_598del MANE Select NP_000465.1:p.Ser197ArgfsTer?
NR_149001.2:n.904_913del
Search 100 bp 5'
Search 100 bp 3'