Canonical Allele Identifier: CA2681939566
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117070-GCCGCCGCCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117072_19117080del , CM000669.2:g.19117072_19117080del GRCh38
NC_000007.13:g.19156695_19156703del , CM000669.1:g.19156695_19156703del GRCh37
NC_000007.12:g.19123220_19123228del NCBI36
NG_008114.1:g.5594_5602del
NG_008114.2:g.5594_5602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.243_251del MANE Select ENSP00000242261.5:p.Gly82_Gly84del
ENST00000242261.5:c.243_251del ENSP00000242261.5:p.Gly82_Gly84del
ENST00000354571.5:c.40_48del
NM_000474.3:c.243_251del NP_000465.1:p.Gly82_Gly84del
XM_011515496.1:c.243_251del XP_011513798.1:p.Gly82_Gly84del
NR_149001.1:n.594_602del
NM_000474.4:c.243_251del MANE Select NP_000465.1:p.Gly82_Gly84del
NR_149001.2:n.558_566del
Search 100 bp 5'
Search 100 bp 3'