Canonical Allele Identifier: CA4174523

Gene: TWIST1

Linked Data

• dbSNP Id: rs770113869
• ExAC: 7:19156665 TGCTGCCGCCGCCGCCGCCCGCGCCGCC / T
• gnomAD v2: 7-19156665-TGCTGCCGCCGCCGCCGCCCGCGCCGCC-T
• gnomAD v3: 7-19117042-TGCTGCCGCCGCCGCCGCCCGCGCCGCC-T
• gnomAD v4: 7-19117042-TGCTGCCGCCGCCGCCGCCCGCGCCGCC-T
• MyVariant Identifiers: chr7:g.19156666_19156692del (hg19) ; chr7:g.19117043_19117069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117045_19117071del , CM000669.2:g.19117045_19117071del	GRCh38
NC_000007.13:g.19156668_19156694del , CM000669.1:g.19156668_19156694del	GRCh37
NC_000007.12:g.19123193_19123219del	NCBI36
NG_008114.1:g.5604_5630del
NG_008114.2:g.5604_5630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.253_279del MANE Select	ENSP00000242261.5:p.Gly85_Ser93del
ENST00000242261.5:c.253_279del	ENSP00000242261.5:p.Gly85_Ser93del
ENST00000354571.5:c.50_76del
NM_000474.3:c.253_279del	NP_000465.1:p.Gly85_Ser93del
XM_011515496.1:c.253_279del	XP_011513798.1:p.Gly85_Ser93del
NR_149001.1:n.604_630del
NM_000474.4:c.253_279del MANE Select	NP_000465.1:p.Gly85_Ser93del
NR_149001.2:n.568_594del