Canonical Allele Identifier: CA4174531
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs753247631
ExAC: 7:19156680 CGCCCGCGCCGCCGCCGCCGCCACA / C
gnomAD v2: 7-19156680-CGCCCGCGCCGCCGCCGCCGCCACA-C
gnomAD v3: 7-19117057-CGCCCGCGCCGCCGCCGCCGCCACA-C
gnomAD v4: 7-19117057-CGCCCGCGCCGCCGCCGCCGCCACA-C
MyVariant Identifiers: chr7:g.19156681_19156704del (hg19) chr7:g.19117058_19117081del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117064_19117087del , CM000669.2:g.19117064_19117087del GRCh38
NC_000007.13:g.19156687_19156710del , CM000669.1:g.19156687_19156710del GRCh37
NC_000007.12:g.19123212_19123235del NCBI36
NG_008114.1:g.5592_5615del
NG_008114.2:g.5592_5615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.241_264del MANE Select ENSP00000242261.5:p.Cys81_Gly88del
ENST00000242261.5:c.241_264del ENSP00000242261.5:p.Cys81_Gly88del
ENST00000354571.5:c.38_61del
NM_000474.3:c.241_264del NP_000465.1:p.Cys81_Gly88del
XM_011515496.1:c.241_264del XP_011513798.1:p.Cys81_Gly88del
NR_149001.1:n.592_615del
NM_000474.4:c.241_264del MANE Select NP_000465.1:p.Cys81_Gly88del
NR_149001.2:n.556_579del
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