Canonical Allele Identifier: CA573191759
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1432858356
gnomAD v2: 7-19156983-AGAG-A
gnomAD v3: 7-19117360-AGAG-A
gnomAD v4: 7-19117360-AGAG-A
MyVariant Identifiers: chr7:g.19156984_19156986del (hg19) chr7:g.19117361_19117363del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117364_19117366del , CM000669.2:g.19117364_19117366del GRCh38
NC_000007.13:g.19156987_19156989del , CM000669.1:g.19156987_19156989del GRCh37
NC_000007.12:g.19123512_19123514del NCBI36
NG_008114.1:g.5310_5312del
NG_008114.2:g.5310_5312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-42_-40del MANE Select ENSP00000242261.5:n.-42_-40del
ENST00000242261.5:c.-42_-40del ENSP00000242261.5:n.-42_-40del
NM_000474.3:c.-42_-40del NP_000465.1:n.-42_-40del
XM_011515496.1:c.-42_-40del XP_011513798.1:n.-42_-40del
NR_149001.1:n.310_312del
NM_000474.4:c.-42_-40del MANE Select NP_000465.1:n.-42_-40del
NR_149001.2:n.274_276del
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