Canonical Allele Identifier: CA2681939693
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117217-CCCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117219_19117221del , CM000669.2:g.19117219_19117221del GRCh38
NC_000007.13:g.19156842_19156844del , CM000669.1:g.19156842_19156844del GRCh37
NC_000007.12:g.19123367_19123369del NCBI36
NG_008114.1:g.5453_5455del
NG_008114.2:g.5453_5455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.102_104del MANE Select ENSP00000242261.5:p.Gly35del
ENST00000242261.5:c.102_104del ENSP00000242261.5:p.Gly35del
NM_000474.3:c.102_104del NP_000465.1:p.Gly35del
XM_011515496.1:c.102_104del XP_011513798.1:p.Gly35del
NR_149001.1:n.453_455del
NM_000474.4:c.102_104del MANE Select NP_000465.1:p.Gly35del
NR_149001.2:n.417_419del
Search 100 bp 5'
Search 100 bp 3'