Canonical Allele Identifier: CA4174530
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573415
ClinVar RCV Id: RCV003317751
dbSNP Id: rs766361142
ExAC: 7:19156673 CCGCCGCCGCCCG / C
gnomAD v2: 7-19156673-CCGCCGCCGCCCG-C
gnomAD v3: 7-19117050-CCGCCGCCGCCCG-C
gnomAD v4: 7-19117050-CCGCCGCCGCCCG-C
MyVariant Identifiers: chr7:g.19156674_19156685del (hg19) chr7:g.19117051_19117062del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117061_19117072del , CM000669.2:g.19117061_19117072del GRCh38
NC_000007.13:g.19156684_19156695del , CM000669.1:g.19156684_19156695del GRCh37
NC_000007.12:g.19123209_19123220del NCBI36
NG_008114.1:g.5611_5622del
NG_008114.2:g.5611_5622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_271del MANE Select ENSP00000242261.5:p.Ala87_Gly90del
ENST00000242261.5:c.260_271del ENSP00000242261.5:p.Ala87_Gly90del
ENST00000354571.5:c.57_68del
NM_000474.3:c.260_271del NP_000465.1:p.Ala87_Gly90del
XM_011515496.1:c.260_271del XP_011513798.1:p.Ala87_Gly90del
NR_149001.1:n.611_622del
NM_000474.4:c.260_271del MANE Select NP_000465.1:p.Ala87_Gly90del
NR_149001.2:n.575_586del
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