Canonical Allele Identifier: CA2681939427
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117042-TGCTGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045_19117050del , CM000669.2:g.19117045_19117050del GRCh38
NC_000007.13:g.19156668_19156673del , CM000669.1:g.19156668_19156673del GRCh37
NC_000007.12:g.19123193_19123198del NCBI36
NG_008114.1:g.5625_5630del
NG_008114.2:g.5625_5630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.274_279del MANE Select ENSP00000242261.5:p.Gly92_Ser93del
ENST00000242261.5:c.274_279del ENSP00000242261.5:p.Gly92_Ser93del
ENST00000354571.5:c.71_76del
NM_000474.3:c.274_279del NP_000465.1:p.Gly92_Ser93del
XM_011515496.1:c.274_279del XP_011513798.1:p.Gly92_Ser93del
NR_149001.1:n.625_630del
NM_000474.4:c.274_279del MANE Select NP_000465.1:p.Gly92_Ser93del
NR_149001.2:n.589_594del
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