Canonical Allele Identifier: CA836362195

Gene: TWIST1

Linked Data

• dbSNP Id: rs1173432431
• gnomAD v3: 7-19117025-ACTCCCGCCGCCGCTG-A
• gnomAD v4: 7-19117025-ACTCCCGCCGCCGCTG-A
• MyVariant Identifiers: chr7:g.19156649_19156663del (hg19) ; chr7:g.19117026_19117040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117028_19117042del , CM000669.2:g.19117028_19117042del	GRCh38
NC_000007.13:g.19156651_19156665del , CM000669.1:g.19156651_19156665del	GRCh37
NC_000007.12:g.19123176_19123190del	NCBI36
NG_008114.1:g.5633_5647del
NG_008114.2:g.5633_5647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.282_296del MANE Select	ENSP00000242261.5:p.Ser95_Ser99del
ENST00000242261.5:c.282_296del	ENSP00000242261.5:p.Ser95_Ser99del
ENST00000354571.5:c.79_93del
NM_000474.3:c.282_296del	NP_000465.1:p.Ser95_Ser99del
XM_011515496.1:c.282_296del	XP_011513798.1:p.Ser95_Ser99del
NR_149001.1:n.633_647del
NM_000474.4:c.282_296del MANE Select	NP_000465.1:p.Ser95_Ser99del
NR_149001.2:n.597_611del