Canonical Allele Identifier: CA2681939558
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117053-CCGCCGCCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117061_19117069del , CM000669.2:g.19117061_19117069del GRCh38
NC_000007.13:g.19156684_19156692del , CM000669.1:g.19156684_19156692del GRCh37
NC_000007.12:g.19123209_19123217del NCBI36
NG_008114.1:g.5611_5619del
NG_008114.2:g.5611_5619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_268del MANE Select ENSP00000242261.5:p.Ala87_Gly89del
ENST00000242261.5:c.260_268del ENSP00000242261.5:p.Ala87_Gly89del
ENST00000354571.5:c.57_65del
NM_000474.3:c.260_268del NP_000465.1:p.Ala87_Gly89del
XM_011515496.1:c.260_268del XP_011513798.1:p.Ala87_Gly89del
NR_149001.1:n.611_619del
NM_000474.4:c.260_268del MANE Select NP_000465.1:p.Ala87_Gly89del
NR_149001.2:n.575_583del
Search 100 bp 5'
Search 100 bp 3'