Canonical Allele Identifier: CA1692250856
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117036_19117039delinsCGCT , CM000669.2:g.19117036_19117039delinsCGCT GRCh38
NC_000007.13:g.19156659_19156662delinsCGCT , CM000669.1:g.19156659_19156662delinsCGCT GRCh37
NC_000007.12:g.19123184_19123187delinsCGCT NCBI36
NG_008114.1:g.5634_5637delinsAGCG
NG_008114.2:g.5634_5637delinsAGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.283_286delinsAGCG MANE Select ENSP00000242261.5:p.Ser95=
ENST00000242261.5:c.283_286delinsAGCG ENSP00000242261.5:p.Ser95=
ENST00000354571.5:c.80_83delinsAGCG
NM_000474.3:c.283_286delinsAGCG NP_000465.1:p.Ser95=
XM_011515496.1:c.283_286delinsAGCG XP_011513798.1:p.Ser95=
NR_149001.1:n.634_637delinsAGCG
NM_000474.4:c.283_286delinsAGCG MANE Select NP_000465.1:p.Ser95=
NR_149001.2:n.598_601delinsAGCG
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