Canonical Allele Identifier: CA2681939692
Gene: TWIST1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000007.14:g.19117217_19117219del , CM000669.2:g.19117217_19117219del GRCh38
NC_000007.13:g.19156840_19156842del , CM000669.1:g.19156840_19156842del GRCh37
NC_000007.12:g.19123365_19123367del NCBI36
NG_008114.1:g.5456_5458del
NG_008114.2:g.5456_5458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.105_107del MANE Select ENSP00000242261.5:p.Gly36del
ENST00000242261.5:c.105_107del ENSP00000242261.5:p.Gly36del
NM_000474.3:c.105_107del NP_000465.1:p.Gly36del
XM_011515496.1:c.105_107del XP_011513798.1:p.Gly36del
NR_149001.1:n.456_458del
NM_000474.4:c.105_107del MANE Select NP_000465.1:p.Gly36del
NR_149001.2:n.420_422del
Search 100 bp 5'
Search 100 bp 3'