Canonical Allele Identifier: CA4174516
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs747533386
ExAC: 7:19156652 CCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG / C
gnomAD v2: 7-19156652-CCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG-C
gnomAD v3: 7-19117029-CCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG-C
gnomAD v4: 7-19117029-CCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG-C
MyVariant Identifiers: chr7:g.19156653_19156685del (hg19) chr7:g.19117030_19117062del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117071del , CM000669.2:g.19117039_19117071del GRCh38
NC_000007.13:g.19156662_19156694del , CM000669.1:g.19156662_19156694del GRCh37
NC_000007.12:g.19123187_19123219del NCBI36
NG_008114.1:g.5611_5643del
NG_008114.2:g.5611_5643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_292del MANE Select ENSP00000242261.5:p.Ala87_Gly97del
ENST00000242261.5:c.260_292del ENSP00000242261.5:p.Ala87_Gly97del
ENST00000354571.5:c.57_89del
NM_000474.3:c.260_292del NP_000465.1:p.Ala87_Gly97del
XM_011515496.1:c.260_292del XP_011513798.1:p.Ala87_Gly97del
NR_149001.1:n.611_643del
NM_000474.4:c.260_292del MANE Select NP_000465.1:p.Ala87_Gly97del
NR_149001.2:n.575_607del
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