Canonical Allele Identifier: CA16603358
Gene: TP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 377386
ClinVar RCV Id: RCV000424672
dbSNP Id: rs1057519625
MyVariant Identifiers: chr17:g.7573976_7573983del (hg19) chr17:g.7670658_7670665del (hg38)
PubMed: PMID:28487881 PMID:29610388
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7670658_7670665del , CM000679.2:g.7670658_7670665del GRCh38
NC_000017.10:g.7573976_7573983del , CM000679.1:g.7573976_7573983del GRCh37
NC_000017.9:g.7514701_7514708del NCBI36
NG_017013.2:g.21886_21893del , LRG_321:g.21886_21893del

Transcript Alleles

HGVS Amino-acid change
ENST00000503591.2:c.1044_1051del ENSP00000426252.2:p.Glu349GlyfsTer?
ENST00000508793.6:c.1044_1051del ENSP00000424104.2:p.Glu349GlyfsTer?
ENST00000509690.6:c.648_655del ENSP00000425104.2:p.Glu217GlyfsTer?
ENST00000514944.6:c.765_772del ENSP00000423862.2:p.Glu256GlyfsTer?
ENST00000604348.6:c.1023_1030del ENSP00000473895.2:p.Glu342GlyfsTer?
ENST00000269305.9:c.1044_1051del MANE Select ENSP00000269305.4:p.Glu349GlyfsTer?
ENST00000269305.8:c.1044_1051del ENSP00000269305.4:p.Glu349GlyfsTer?
ENST00000359597.8:c.993+2870_993+2877del ENSP00000352610.4:n.993+2870_993+2877del
ENST00000413465.6:c.782+3516_782+3523del ENSP00000410739.2:n.782+3516_782+3523del
ENST00000420246.6:c.*151_*158del ENSP00000391127.2:n.*151_*158del
ENST00000445888.6:c.1044_1051del ENSP00000391478.2:p.Glu349GlyfsTer?
ENST00000455263.6:c.*63_*70del ENSP00000398846.2:n.*63_*70del
ENST00000504290.5:c.*63_*70del ENSP00000484409.1:n.*63_*70del
ENST00000504937.5:c.648_655del ENSP00000481179.1:p.Glu217GlyfsTer?
ENST00000510385.5:c.*151_*158del ENSP00000478499.1:n.*151_*158del
ENST00000576024.1:c.54-975_54-968del
ENST00000610292.4:c.927_934del ENSP00000478219.1:p.Glu310GlyfsTer?
ENST00000610538.4:c.*63_*70del ENSP00000480868.1:n.*63_*70del
ENST00000610623.4:c.*63_*70del ENSP00000477531.1:n.*63_*70del
ENST00000615910.4:c.1011_1018del ENSP00000482903.1:p.Glu338GlyfsTer?
ENST00000617185.4:c.*151_*158del ENSP00000482258.1:n.*151_*158del
ENST00000618944.4:c.*151_*158del ENSP00000481401.1:n.*151_*158del
ENST00000619186.4:c.567_574del ENSP00000484375.1:p.Glu190GlyfsTer?
ENST00000619485.4:c.927_934del ENSP00000482537.1:p.Glu310GlyfsTer?
ENST00000620739.4:c.927_934del ENSP00000481638.1:p.Glu310GlyfsTer?
ENST00000622645.4:c.*151_*158del ENSP00000482222.1:n.*151_*158del
ENST00000635293.1:c.927_934del ENSP00000488924.1:p.Glu310GlyfsTer?
NM_000546.5:c.1044_1051del , LRG_321t1:c.1044_1051del NP_000537.3:p.Glu349GlyfsTer?
NM_001126112.2:c.1044_1051del , LRG_321t2:c.1044_1051del NP_001119584.1:p.Glu349GlyfsTer?
NM_001126113.2:c.*63_*70del , LRG_321t4:c.*63_*70del NP_001119585.1:n.*63_*70del
NM_001126114.2:c.*151_*158del , LRG_321t3:c.*151_*158del NP_001119586.1:n.*151_*158del
NM_001126115.1:c.648_655del , LRG_321t5:c.648_655del NP_001119587.1:p.Glu217GlyfsTer?
NM_001126116.1:c.*151_*158del , LRG_321t6:c.*151_*158del NP_001119588.1:n.*151_*158del
NM_001126117.1:c.*63_*70del , LRG_321t7:c.*63_*70del NP_001119589.1:n.*63_*70del
NM_001126118.1:c.927_934del , LRG_321t8:c.927_934del NP_001119590.1:p.Glu310GlyfsTer?
NM_001276695.1:c.*63_*70del NP_001263624.1:n.*63_*70del
NM_001276696.1:c.*151_*158del NP_001263625.1:n.*151_*158del
NM_001276697.1:c.567_574del NP_001263626.1:p.Glu190GlyfsTer?
NM_001276698.1:c.*151_*158del NP_001263627.1:n.*151_*158del
NM_001276699.1:c.*63_*70del NP_001263628.1:n.*63_*70del
NM_001276760.1:c.927_934del NP_001263689.1:p.Glu310GlyfsTer?
NM_001276761.1:c.927_934del NP_001263690.1:p.Glu310GlyfsTer?
NM_001276695.2:c.*63_*70del NP_001263624.1:n.*63_*70del
NM_001276696.2:c.*151_*158del NP_001263625.1:n.*151_*158del
NM_001276697.2:c.567_574del NP_001263626.1:p.Glu190GlyfsTer?
NM_001276698.2:c.*151_*158del NP_001263627.1:n.*151_*158del
NM_001276699.2:c.*63_*70del NP_001263628.1:n.*63_*70del
NM_001276760.2:c.927_934del NP_001263689.1:p.Glu310GlyfsTer?
NM_001276761.2:c.927_934del NP_001263690.1:p.Glu310GlyfsTer?
NM_000546.6:c.1044_1051del MANE Select NP_000537.3:p.Glu349GlyfsTer?
NM_001126112.3:c.1044_1051del NP_001119584.1:p.Glu349GlyfsTer?
NM_001126113.3:c.*63_*70del NP_001119585.1:n.*63_*70del
NM_001126114.3:c.*151_*158del NP_001119586.1:n.*151_*158del
NM_001126115.2:c.648_655del NP_001119587.1:p.Glu217GlyfsTer?
NM_001126116.2:c.*151_*158del NP_001119588.1:n.*151_*158del
NM_001126117.2:c.*63_*70del NP_001119589.1:n.*63_*70del
NM_001126118.2:c.927_934del NP_001119590.1:p.Glu310GlyfsTer?
NM_001276695.3:c.*63_*70del NP_001263624.1:n.*63_*70del
NM_001276696.3:c.*151_*158del NP_001263625.1:n.*151_*158del
NM_001276697.3:c.567_574del NP_001263626.1:p.Glu190GlyfsTer?
NM_001276698.3:c.*151_*158del NP_001263627.1:n.*151_*158del
NM_001276699.3:c.*63_*70del NP_001263628.1:n.*63_*70del
NM_001276760.3:c.927_934del NP_001263689.1:p.Glu310GlyfsTer?
NM_001276761.3:c.927_934del NP_001263690.1:p.Glu310GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'