Canonical Allele Identifier: CA915944888
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642695
ClinVar RCV Id: RCV000796206
dbSNP Id: rs1585617865
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117247_19117254dup , CM000669.2:g.19117247_19117254dup GRCh38
NC_000007.13:g.19156870_19156877dup , CM000669.1:g.19156870_19156877dup GRCh37
NC_000007.12:g.19123395_19123402dup NCBI36
NG_008114.1:g.5419_5426dup
NG_008114.2:g.5419_5426dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.68_75dup MANE Select ENSP00000242261.5:p.Arg26SerfsTer?
ENST00000242261.5:c.68_75dup ENSP00000242261.5:p.Arg26SerfsTer?
NM_000474.3:c.68_75dup NP_000465.1:p.Arg26SerfsTer?
XM_011515496.1:c.68_75dup XP_011513798.1:p.Arg26SerfsTer?
NR_149001.1:n.419_426dup
NM_000474.4:c.68_75dup MANE Select NP_000465.1:p.Arg26SerfsTer?
NR_149001.2:n.383_390dup
Search 100 bp 5'
Search 100 bp 3'