Canonical Allele Identifier: CA1692250913
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs750238627
gnomAD v4: 7-19117045-TGCCGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117055_19117060del , CM000669.2:g.19117055_19117060del GRCh38
NC_000007.13:g.19156678_19156683del , CM000669.1:g.19156678_19156683del GRCh37
NC_000007.12:g.19123203_19123208del NCBI36
NG_008114.1:g.5622_5627del
NG_008114.2:g.5622_5627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.271_276del MANE Select ENSP00000242261.5:p.Gly91_Gly92del
ENST00000242261.5:c.271_276del ENSP00000242261.5:p.Gly91_Gly92del
ENST00000354571.5:c.68_73del
NM_000474.3:c.271_276del NP_000465.1:p.Gly91_Gly92del
XM_011515496.1:c.271_276del XP_011513798.1:p.Gly91_Gly92del
NR_149001.1:n.622_627del
NM_000474.4:c.271_276del MANE Select NP_000465.1:p.Gly91_Gly92del
NR_149001.2:n.586_591del
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