Canonical Allele Identifier: CA1692250824
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117029_19117062delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG , CM000669.2:g.19117029_19117062delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG GRCh38
NC_000007.13:g.19156652_19156685delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG , CM000669.1:g.19156652_19156685delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG GRCh37
NC_000007.12:g.19123177_19123210delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG NCBI36
NG_008114.1:g.5611_5644delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG
NG_008114.2:g.5611_5644delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG MANE Select ENSP00000242261.5:p.Ala87=
ENST00000242261.5:c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG ENSP00000242261.5:p.Ala87=
ENST00000354571.5:c.57_90delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG
NM_000474.3:c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG NP_000465.1:p.Ala87=
XM_011515496.1:c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG XP_011513798.1:p.Ala87=
NR_149001.1:n.611_644delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG
NM_000474.4:c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG MANE Select NP_000465.1:p.Ala87=
NR_149001.2:n.575_608delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG