Canonical Allele Identifier: CA915944884
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 691563
ClinVar RCV Id: RCV000984623
dbSNP Id: rs1585617240

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117015_19117016del , CM000669.2:g.19117015_19117016del GRCh38
NC_000007.13:g.19156638_19156639del , CM000669.1:g.19156638_19156639del GRCh37
NC_000007.12:g.19123163_19123164del NCBI36
NG_008114.1:g.5657_5658del
NG_008114.2:g.5657_5658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.306_307del MANE Select ENSP00000242261.5:p.Tyr103ArgfsTer?
ENST00000242261.5:c.306_307del ENSP00000242261.5:p.Tyr103ArgfsTer?
ENST00000354571.5:c.103_104del
NM_000474.3:c.306_307del NP_000465.1:p.Tyr103ArgfsTer?
XM_011515496.1:c.306_307del XP_011513798.1:p.Tyr103ArgfsTer?
NR_149001.1:n.657_658del
NM_000474.4:c.306_307del MANE Select NP_000465.1:p.Tyr103ArgfsTer?
NR_149001.2:n.621_622del