Canonical Allele Identifier: CA2774611316
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117075_19117076insCGCGCC , CM000669.2:g.19117075_19117076insCGCGCC GRCh38
NC_000007.13:g.19156698_19156699insCGCGCC , CM000669.1:g.19156698_19156699insCGCGCC GRCh37
NC_000007.12:g.19123223_19123224insCGCGCC NCBI36
NG_008114.1:g.5601_5602insCGGGCG
NG_008114.2:g.5601_5602insCGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.250_251insCGGGCG MANE Select ENSP00000242261.5:p.Gly83_Gly84insAlaGly
ENST00000242261.5:c.250_251insCGGGCG ENSP00000242261.5:p.Gly83_Gly84insAlaGly
ENST00000354571.5:c.47_48insCGGGCG
NM_000474.3:c.250_251insCGGGCG NP_000465.1:p.Gly83_Gly84insAlaGly
XM_011515496.1:c.250_251insCGGGCG XP_011513798.1:p.Gly83_Gly84insAlaGly
NR_149001.1:n.601_602insCGGGCG
NM_000474.4:c.250_251insCGGGCG MANE Select NP_000465.1:p.Gly83_Gly84insAlaGly
NR_149001.2:n.565_566insCGGGCG
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