Canonical Allele Identifier: CA1692250951

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117050_19117062delinsCCGCCGCCGCCCG , CM000669.2:g.19117050_19117062delinsCCGCCGCCGCCCG	GRCh38
NC_000007.13:g.19156673_19156685delinsCCGCCGCCGCCCG , CM000669.1:g.19156673_19156685delinsCCGCCGCCGCCCG	GRCh37
NC_000007.12:g.19123198_19123210delinsCCGCCGCCGCCCG	NCBI36
NG_008114.1:g.5611_5623delinsCGGGCGGCGGCGG
NG_008114.2:g.5611_5623delinsCGGGCGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.260_272delinsCGGGCGGCGGCGG MANE Select	ENSP00000242261.5:p.Ala87=
ENST00000242261.5:c.260_272delinsCGGGCGGCGGCGG	ENSP00000242261.5:p.Ala87=
ENST00000354571.5:c.57_69delinsCGGGCGGCGGCGG
NM_000474.3:c.260_272delinsCGGGCGGCGGCGG	NP_000465.1:p.Ala87=
XM_011515496.1:c.260_272delinsCGGGCGGCGGCGG	XP_011513798.1:p.Ala87=
NR_149001.1:n.611_623delinsCGGGCGGCGGCGG
NM_000474.4:c.260_272delinsCGGGCGGCGGCGG MANE Select	NP_000465.1:p.Ala87=
NR_149001.2:n.575_587delinsCGGGCGGCGGCGG