Canonical Allele Identifier: CA1692250808

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117028_19117046delinsCCCGCCGCCGCTGCTGCTG , CM000669.2:g.19117028_19117046delinsCCCGCCGCCGCTGCTGCTG	GRCh38
NC_000007.13:g.19156651_19156669delinsCCCGCCGCCGCTGCTGCTG , CM000669.1:g.19156651_19156669delinsCCCGCCGCCGCTGCTGCTG	GRCh37
NC_000007.12:g.19123176_19123194delinsCCCGCCGCCGCTGCTGCTG	NCBI36
NG_008114.1:g.5627_5645delinsCAGCAGCAGCGGCGGCGGG
NG_008114.2:g.5627_5645delinsCAGCAGCAGCGGCGGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.276_294delinsCAGCAGCAGCGGCGGCGGG MANE Select	ENSP00000242261.5:p.Gly92=
ENST00000242261.5:c.276_294delinsCAGCAGCAGCGGCGGCGGG	ENSP00000242261.5:p.Gly92=
ENST00000354571.5:c.73_91delinsCAGCAGCAGCGGCGGCGGG
NM_000474.3:c.276_294delinsCAGCAGCAGCGGCGGCGGG	NP_000465.1:p.Gly92=
XM_011515496.1:c.276_294delinsCAGCAGCAGCGGCGGCGGG	XP_011513798.1:p.Gly92=
NR_149001.1:n.627_645delinsCAGCAGCAGCGGCGGCGGG
NM_000474.4:c.276_294delinsCAGCAGCAGCGGCGGCGGG MANE Select	NP_000465.1:p.Gly92=
NR_149001.2:n.591_609delinsCAGCAGCAGCGGCGGCGGG