Canonical Allele Identifier: CA573294067
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1344454850
gnomAD v2: 7-19156665-TGCTGCCGCCGCCGCCGCCCGC-T
gnomAD v3: 7-19117042-TGCTGCCGCCGCCGCCGCCCGC-T
gnomAD v4: 7-19117042-TGCTGCCGCCGCCGCCGCCCGC-T
MyVariant Identifiers: chr7:g.19156666_19156686del (hg19) chr7:g.19156668_19156692delinsCGCC (hg19) chr7:g.19117043_19117063del (hg38) chr7:g.19117045_19117069delinsCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045_19117065del , CM000669.2:g.19117045_19117065del GRCh38
NC_000007.13:g.19156668_19156688del , CM000669.1:g.19156668_19156688del GRCh37
NC_000007.12:g.19123193_19123213del NCBI36
NG_008114.1:g.5610_5630del
NG_008114.2:g.5610_5630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.259_279del MANE Select ENSP00000242261.5:p.Ala87_Ser93del
ENST00000242261.5:c.259_279del ENSP00000242261.5:p.Ala87_Ser93del
ENST00000354571.5:c.56_76del
NM_000474.3:c.259_279del NP_000465.1:p.Ala87_Ser93del
XM_011515496.1:c.259_279del XP_011513798.1:p.Ala87_Ser93del
NR_149001.1:n.610_630del
NM_000474.4:c.259_279del MANE Select NP_000465.1:p.Ala87_Ser93del
NR_149001.2:n.574_594del
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