Canonical Allele Identifier: CA155466603

Gene: TWIST1

Linked Data

• dbSNP Id: rs977336062
• gnomAD v2: 7-19156665-T-TGCTGCC
• gnomAD v3: 7-19117042-T-TGCTGCC
• gnomAD v4: 7-19117042-T-TGCTGCC
• MyVariant Identifiers: chr7:g.19156674_19156692delinsTGCCGCCGCCGCCGCCCGCGCCGCC (hg19) ; chr7:g.19156665_19156666insGCTGCC (hg19) ; chr7:g.19117051_19117069delinsTGCCGCCGCCGCCGCCCGCGCCGCC (hg38) ; chr7:g.19117042_19117043insGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117045_19117050dup , CM000669.2:g.19117045_19117050dup	GRCh38
NC_000007.13:g.19156668_19156673dup , CM000669.1:g.19156668_19156673dup	GRCh37
NC_000007.12:g.19123193_19123198dup	NCBI36
NG_008114.1:g.5625_5630dup
NG_008114.2:g.5625_5630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.274_279dup MANE Select	ENSP00000242261.5:p.Ser93_Ser94insGlySer
ENST00000242261.5:c.274_279dup	ENSP00000242261.5:p.Ser93_Ser94insGlySer
ENST00000354571.5:c.71_76dup
NM_000474.3:c.274_279dup	NP_000465.1:p.Ser93_Ser94insGlySer
XM_011515496.1:c.274_279dup	XP_011513798.1:p.Ser93_Ser94insGlySer
NR_149001.1:n.625_630dup
NM_000474.4:c.274_279dup MANE Select	NP_000465.1:p.Ser93_Ser94insGlySer
NR_149001.2:n.589_594dup