Canonical Allele Identifier: CA2681939691
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117214-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117219dup , CM000669.2:g.19117219dup GRCh38
NC_000007.13:g.19156842dup , CM000669.1:g.19156842dup GRCh37
NC_000007.12:g.19123367dup NCBI36
NG_008114.1:g.5458dup
NG_008114.2:g.5458dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.107dup MANE Select ENSP00000242261.5:p.Arg37ThrfsTer?
ENST00000242261.5:c.107dup ENSP00000242261.5:p.Arg37ThrfsTer?
NM_000474.3:c.107dup NP_000465.1:p.Arg37ThrfsTer?
XM_011515496.1:c.107dup XP_011513798.1:p.Arg37ThrfsTer?
NR_149001.1:n.458dup
NM_000474.4:c.107dup MANE Select NP_000465.1:p.Arg37ThrfsTer?
NR_149001.2:n.422dup
Search 100 bp 5'
Search 100 bp 3'