Canonical Allele Identifier: CA645372784

Gene: APC

Linked Data

• ClinVar Variation Id: 433642
• ClinVar RCV Id: RCV000504269 ; RCV004023354
• dbSNP Id: rs1554084698
• MyVariant Identifiers: chr5:g.112174405_112174406del (hg19) ; chr5:g.112838708_112838709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838708_112838709del , CM000667.2:g.112838708_112838709del	GRCh38
NC_000005.9:g.112174405_112174406del , CM000667.1:g.112174405_112174406del	GRCh37
NC_000005.8:g.112202304_112202305del	NCBI36
NG_008481.4:g.151188_151189del , LRG_130:g.151188_151189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2779_2780del	ENSP00000484935.2:n.2779_2780del
ENST00000504915.3:c.3168_3169del	ENSP00000473355.2:p.Gly1057LysfsTer8
ENST00000505350.2:c.*3120_*3121del	ENSP00000481752.1:n.*3120_*3121del
ENST00000507379.6:c.3060_3061del	ENSP00000423224.2:p.Gly1021LysfsTer8
ENST00000509732.6:c.3114_3115del	ENSP00000426541.2:p.Gly1039LysfsTer8
ENST00000512211.7:c.3114_3115del	ENSP00000423828.3:p.Gly1039LysfsTer8
ENST00000257430.9:c.3114_3115del MANE Select	ENSP00000257430.4:p.Gly1039LysfsTer8
ENST00000257430.8:c.3114_3115del	ENSP00000257430.4:p.Gly1039LysfsTer8
ENST00000502371.2:c.1467_1468del
ENST00000507379.5:c.3060_3061del	ENSP00000423224.1:p.Gly1021LysfsTer8
ENST00000508376.6:c.3114_3115del	ENSP00000427089.2:p.Gly1039LysfsTer8
ENST00000508624.5:c.*2436_*2437del	ENSP00000424265.1:n.*2436_*2437del
ENST00000512211.6:c.3114_3115del	ENSP00000423828.2:p.Gly1039LysfsTer8
ENST00000520401.1:c.230+9736_230+9737del
NM_000038.5:c.3114_3115del	NP_000029.2:p.Gly1039LysfsTer8
NM_001127510.2:c.3114_3115del	NP_001120982.1:p.Gly1039LysfsTer8
NM_001127511.2:c.3060_3061del	NP_001120983.2:p.Gly1021LysfsTer8
NM_001354895.1:c.3114_3115del	NP_001341824.1:p.Gly1039LysfsTer8
NM_001354896.1:c.3168_3169del	NP_001341825.1:p.Gly1057LysfsTer8
NM_001354897.1:c.3144_3145del	NP_001341826.1:p.Gly1049LysfsTer8
NM_001354898.1:c.3039_3040del	NP_001341827.1:p.Gly1014LysfsTer8
NM_001354899.1:c.3030_3031del	NP_001341828.1:p.Gly1011LysfsTer8
NM_001354900.1:c.2991_2992del	NP_001341829.1:p.Gly998LysfsTer8
NM_001354901.1:c.2937_2938del	NP_001341830.1:p.Gly980LysfsTer8
NM_001354902.1:c.2841_2842del	NP_001341831.1:p.Gly948LysfsTer8
NM_001354903.1:c.2811_2812del	NP_001341832.1:p.Gly938LysfsTer8
NM_001354904.1:c.2736_2737del	NP_001341833.1:p.Gly913LysfsTer8
NM_001354905.1:c.2634_2635del	NP_001341834.1:p.Gly879LysfsTer8
NM_001354906.1:c.2265_2266del	NP_001341835.1:p.Gly756LysfsTer8
NM_000038.6:c.3114_3115del MANE Select	NP_000029.2:p.Gly1039LysfsTer8
NM_001127510.3:c.3114_3115del	NP_001120982.1:p.Gly1039LysfsTer8
NM_001127511.3:c.3060_3061del	NP_001120983.2:p.Gly1021LysfsTer8
NM_001354895.2:c.3114_3115del	NP_001341824.1:p.Gly1039LysfsTer8
NM_001354896.2:c.3168_3169del	NP_001341825.1:p.Gly1057LysfsTer8
NM_001354897.2:c.3144_3145del	NP_001341826.1:p.Gly1049LysfsTer8
NM_001354898.2:c.3039_3040del	NP_001341827.1:p.Gly1014LysfsTer8
NM_001354899.2:c.3030_3031del	NP_001341828.1:p.Gly1011LysfsTer8
NM_001354900.2:c.2991_2992del	NP_001341829.1:p.Gly998LysfsTer8
NM_001354901.2:c.2937_2938del	NP_001341830.1:p.Gly980LysfsTer8
NM_001354902.2:c.2841_2842del	NP_001341831.1:p.Gly948LysfsTer8
NM_001354903.2:c.2811_2812del	NP_001341832.1:p.Gly938LysfsTer8
NM_001354904.2:c.2736_2737del	NP_001341833.1:p.Gly913LysfsTer8
NM_001354905.2:c.2634_2635del	NP_001341834.1:p.Gly879LysfsTer8
NM_001354906.2:c.2265_2266del	NP_001341835.1:p.Gly756LysfsTer8