Canonical Allele Identifier: CA658760927

Gene: APC

Linked Data

• ClinVar Variation Id: 1459097
• ClinVar RCV Id: RCV002458888 ; RCV002569150 ; RCV003534807
• dbSNP Id: rs2149893274
• PubMed: PMID:11247896 ; PMID:16088911 ; PMID:20223039 ; PMID:21078199

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839099_112839103del , CM000667.2:g.112839099_112839103del	GRCh38
NC_000005.9:g.112174796_112174800del , CM000667.1:g.112174796_112174800del	GRCh37
NC_000005.8:g.112202695_112202699del	NCBI36
NG_008481.4:g.151579_151583del , LRG_130:g.151579_151583del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3170_3174del	ENSP00000484935.2:n.3170_3174del
ENST00000504915.3:c.3559_3563del	ENSP00000473355.2:p.Glu1187ThrfsTer8
ENST00000505350.2:c.*3511_*3515del	ENSP00000481752.1:n.*3511_*3515del
ENST00000507379.6:c.3451_3455del	ENSP00000423224.2:p.Glu1151ThrfsTer8
ENST00000509732.6:c.3505_3509del	ENSP00000426541.2:p.Glu1169ThrfsTer8
ENST00000512211.7:c.3505_3509del	ENSP00000423828.3:p.Glu1169ThrfsTer8
ENST00000257430.9:c.3505_3509del MANE Select	ENSP00000257430.4:p.Glu1169ThrfsTer8
ENST00000257430.8:c.3505_3509del	ENSP00000257430.4:p.Glu1169ThrfsTer8
ENST00000502371.2:c.1858_1862del
ENST00000508376.6:c.3505_3509del	ENSP00000427089.2:p.Glu1169ThrfsTer8
ENST00000508624.5:c.*2827_*2831del	ENSP00000424265.1:n.*2827_*2831del
ENST00000512211.6:c.3505_3509del	ENSP00000423828.2:p.Glu1169ThrfsTer8
ENST00000520401.1:c.230+10127_230+10131del
NM_000038.5:c.3505_3509del	NP_000029.2:p.Glu1169ThrfsTer8
NM_001127510.2:c.3505_3509del	NP_001120982.1:p.Glu1169ThrfsTer8
NM_001127511.2:c.3451_3455del	NP_001120983.2:p.Glu1151ThrfsTer8
NM_001354895.1:c.3505_3509del	NP_001341824.1:p.Glu1169ThrfsTer8
NM_001354896.1:c.3559_3563del	NP_001341825.1:p.Glu1187ThrfsTer8
NM_001354897.1:c.3535_3539del	NP_001341826.1:p.Glu1179ThrfsTer8
NM_001354898.1:c.3430_3434del	NP_001341827.1:p.Glu1144ThrfsTer8
NM_001354899.1:c.3421_3425del	NP_001341828.1:p.Glu1141ThrfsTer8
NM_001354900.1:c.3382_3386del	NP_001341829.1:p.Glu1128ThrfsTer8
NM_001354901.1:c.3328_3332del	NP_001341830.1:p.Glu1110ThrfsTer8
NM_001354902.1:c.3232_3236del	NP_001341831.1:p.Glu1078ThrfsTer8
NM_001354903.1:c.3202_3206del	NP_001341832.1:p.Glu1068ThrfsTer8
NM_001354904.1:c.3127_3131del	NP_001341833.1:p.Glu1043ThrfsTer8
NM_001354905.1:c.3025_3029del	NP_001341834.1:p.Glu1009ThrfsTer8
NM_001354906.1:c.2656_2660del	NP_001341835.1:p.Glu886ThrfsTer8
NM_000038.6:c.3505_3509del MANE Select	NP_000029.2:p.Glu1169ThrfsTer8
NM_001127510.3:c.3505_3509del	NP_001120982.1:p.Glu1169ThrfsTer8
NM_001127511.3:c.3451_3455del	NP_001120983.2:p.Glu1151ThrfsTer8
NM_001354895.2:c.3505_3509del	NP_001341824.1:p.Glu1169ThrfsTer8
NM_001354896.2:c.3559_3563del	NP_001341825.1:p.Glu1187ThrfsTer8
NM_001354897.2:c.3535_3539del	NP_001341826.1:p.Glu1179ThrfsTer8
NM_001354898.2:c.3430_3434del	NP_001341827.1:p.Glu1144ThrfsTer8
NM_001354899.2:c.3421_3425del	NP_001341828.1:p.Glu1141ThrfsTer8
NM_001354900.2:c.3382_3386del	NP_001341829.1:p.Glu1128ThrfsTer8
NM_001354901.2:c.3328_3332del	NP_001341830.1:p.Glu1110ThrfsTer8
NM_001354902.2:c.3232_3236del	NP_001341831.1:p.Glu1078ThrfsTer8
NM_001354903.2:c.3202_3206del	NP_001341832.1:p.Glu1068ThrfsTer8
NM_001354904.2:c.3127_3131del	NP_001341833.1:p.Glu1043ThrfsTer8
NM_001354905.2:c.3025_3029del	NP_001341834.1:p.Glu1009ThrfsTer8
NM_001354906.2:c.2656_2660del	NP_001341835.1:p.Glu886ThrfsTer8