Canonical Allele Identifier: CA2681939571
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117075-C-CGCTGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117077_19117078insTGCTGC , CM000669.2:g.19117077_19117078insTGCTGC GRCh38
NC_000007.13:g.19156700_19156701insTGCTGC , CM000669.1:g.19156700_19156701insTGCTGC GRCh37
NC_000007.12:g.19123225_19123226insTGCTGC NCBI36
NG_008114.1:g.5597_5598insAGCAGC
NG_008114.2:g.5597_5598insAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.246_247insAGCAGC MANE Select ENSP00000242261.5:p.Gly82_Gly83insSerSer
ENST00000242261.5:c.246_247insAGCAGC ENSP00000242261.5:p.Gly82_Gly83insSerSer
ENST00000354571.5:c.43_44insAGCAGC
NM_000474.3:c.246_247insAGCAGC NP_000465.1:p.Gly82_Gly83insSerSer
XM_011515496.1:c.246_247insAGCAGC XP_011513798.1:p.Gly82_Gly83insSerSer
NR_149001.1:n.597_598insAGCAGC
NM_000474.4:c.246_247insAGCAGC MANE Select NP_000465.1:p.Gly82_Gly83insSerSer
NR_149001.2:n.561_562insAGCAGC
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