Canonical Allele Identifier: CA4174524

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 256223
• ClinVar RCV Id: RCV000248497 ; RCV000653737 ; RCV001723838
• dbSNP Id: rs544465774
• ExAC: 7:19156668 TGCCGCCGCCGCCGCCCGC / T
• gnomAD v2: 7-19156668-TGCCGCCGCCGCCGCCCGC-T
• gnomAD v3: 7-19117045-TGCCGCCGCCGCCGCCCGC-T
• gnomAD v4: 7-19117045-TGCCGCCGCCGCCGCCCGC-T
• COSMIC: COSM4423796
• MyVariant Identifiers: chr7:g.19156672_19156689del (hg19) ; chr7:g.19156669_19156686del (hg19) ; chr7:g.19117049_19117066del (hg38) ; chr7:g.19117046_19117063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117061_19117078del , CM000669.2:g.19117061_19117078del	GRCh38
NC_000007.13:g.19156684_19156701del , CM000669.1:g.19156684_19156701del	GRCh37
NC_000007.12:g.19123209_19123226del	NCBI36
NG_008114.1:g.5610_5627del
NG_008114.2:g.5610_5627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.259_276del MANE Select	ENSP00000242261.5:p.Ala87_Gly92del
ENST00000242261.5:c.259_276del	ENSP00000242261.5:p.Ala87_Gly92del
ENST00000354571.5:c.56_73del
NM_000474.3:c.259_276del	NP_000465.1:p.Ala87_Gly92del
XM_011515496.1:c.259_276del	XP_011513798.1:p.Ala87_Gly92del
NR_149001.1:n.610_627del
NM_000474.4:c.259_276del MANE Select	NP_000465.1:p.Ala87_Gly92del
NR_149001.2:n.574_591del