Canonical Allele Identifier: CA1692250885

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117042_19117069delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC , CM000669.2:g.19117042_19117069delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC	GRCh38
NC_000007.13:g.19156665_19156692delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC , CM000669.1:g.19156665_19156692delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC	GRCh37
NC_000007.12:g.19123190_19123217delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC	NCBI36
NG_008114.1:g.5604_5631delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA
NG_008114.2:g.5604_5631delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA MANE Select	ENSP00000242261.5:p.Gly85=
ENST00000242261.5:c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA	ENSP00000242261.5:p.Gly85=
ENST00000354571.5:c.50_77delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA
NM_000474.3:c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA	NP_000465.1:p.Gly85=
XM_011515496.1:c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA	XP_011513798.1:p.Gly85=
NR_149001.1:n.604_631delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA
NM_000474.4:c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA MANE Select	NP_000465.1:p.Gly85=
NR_149001.2:n.568_595delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA