Canonical Allele Identifier: CA2681939408
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116858-T-TCTGGATAAAATATA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116858_19116859insCTGGATAAAATATA , CM000669.2:g.19116858_19116859insCTGGATAAAATATA GRCh38
NC_000007.13:g.19156481_19156482insCTGGATAAAATATA , CM000669.1:g.19156481_19156482insCTGGATAAAATATA GRCh37
NC_000007.12:g.19123006_19123007insCTGGATAAAATATA NCBI36
NG_008114.1:g.5814_5815insTATATTTTATCCAG
NG_008114.2:g.5814_5815insTATATTTTATCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.463_464insTATATTTTATCCAG MANE Select ENSP00000242261.5:p.Tyr155LeufsTer?
ENST00000242261.5:c.463_464insTATATTTTATCCAG ENSP00000242261.5:p.Tyr155LeufsTer?
ENST00000354571.5:c.260_261insTATATTTTATCCAG
ENST00000443687.5:c.66_67insTATATTTTATCCAG
NM_000474.3:c.463_464insTATATTTTATCCAG NP_000465.1:p.Tyr155LeufsTer?
XM_011515496.1:c.463_464insTATATTTTATCCAG XP_011513798.1:p.Tyr155LeufsTer?
NR_149001.1:n.814_815insTATATTTTATCCAG
NM_000474.4:c.463_464insTATATTTTATCCAG MANE Select NP_000465.1:p.Tyr155LeufsTer?
NR_149001.2:n.778_779insTATATTTTATCCAG
Search 100 bp 5'
Search 100 bp 3'