Canonical Allele Identifier: CA4174529

Gene: TWIST1

Linked Data

• dbSNP Id: rs760471055
• ExAC: 7:19156670 CCGCCGCCGCCGCCCG / C
• gnomAD v2: 7-19156670-CCGCCGCCGCCGCCCG-C
• gnomAD v3: 7-19117047-CCGCCGCCGCCGCCCG-C
• gnomAD v4: 7-19117047-CCGCCGCCGCCGCCCG-C
• MyVariant Identifiers: chr7:g.19156671_19156685del (hg19) ; chr7:g.19117048_19117062del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117061_19117075del , CM000669.2:g.19117061_19117075del	GRCh38
NC_000007.13:g.19156684_19156698del , CM000669.1:g.19156684_19156698del	GRCh37
NC_000007.12:g.19123209_19123223del	NCBI36
NG_008114.1:g.5611_5625del
NG_008114.2:g.5611_5625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.260_274del MANE Select	ENSP00000242261.5:p.Ala87_Gly91del
ENST00000242261.5:c.260_274del	ENSP00000242261.5:p.Ala87_Gly91del
ENST00000354571.5:c.57_71del
NM_000474.3:c.260_274del	NP_000465.1:p.Ala87_Gly91del
XM_011515496.1:c.260_274del	XP_011513798.1:p.Ala87_Gly91del
NR_149001.1:n.611_625del
NM_000474.4:c.260_274del MANE Select	NP_000465.1:p.Ala87_Gly91del
NR_149001.2:n.575_589del