Canonical Allele Identifier: CA1692250938
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117047_19117062delinsCCGCCGCCGCCGCCCG , CM000669.2:g.19117047_19117062delinsCCGCCGCCGCCGCCCG GRCh38
NC_000007.13:g.19156670_19156685delinsCCGCCGCCGCCGCCCG , CM000669.1:g.19156670_19156685delinsCCGCCGCCGCCGCCCG GRCh37
NC_000007.12:g.19123195_19123210delinsCCGCCGCCGCCGCCCG NCBI36
NG_008114.1:g.5611_5626delinsCGGGCGGCGGCGGCGG
NG_008114.2:g.5611_5626delinsCGGGCGGCGGCGGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_275delinsCGGGCGGCGGCGGCGG MANE Select ENSP00000242261.5:p.Ala87=
ENST00000242261.5:c.260_275delinsCGGGCGGCGGCGGCGG ENSP00000242261.5:p.Ala87=
ENST00000354571.5:c.57_72delinsCGGGCGGCGGCGGCGG
NM_000474.3:c.260_275delinsCGGGCGGCGGCGGCGG NP_000465.1:p.Ala87=
XM_011515496.1:c.260_275delinsCGGGCGGCGGCGGCGG XP_011513798.1:p.Ala87=
NR_149001.1:n.611_626delinsCGGGCGGCGGCGGCGG
NM_000474.4:c.260_275delinsCGGGCGGCGGCGGCGG MANE Select NP_000465.1:p.Ala87=
NR_149001.2:n.575_590delinsCGGGCGGCGGCGGCGG