Canonical Allele Identifier: CA658796580

Gene: APC

Linked Data

• ClinVar Variation Id: 537409
• ClinVar RCV Id: RCV002458097 ; RCV003538415
• dbSNP Id: rs1554084984
• gnomAD v3: 5-112838985-CAAG-C
• gnomAD v4: 5-112838985-CAAG-C
• MyVariant Identifiers: chr5:g.112174687_112174689del (hg19) ; chr5:g.112838990_112838992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838990_112838992del , CM000667.2:g.112838990_112838992del	GRCh38
NC_000005.9:g.112174687_112174689del , CM000667.1:g.112174687_112174689del	GRCh37
NC_000005.8:g.112202586_112202588del	NCBI36
NG_008481.4:g.151470_151472del , LRG_130:g.151470_151472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3061_3063del	ENSP00000484935.2:n.3061_3063del
ENST00000504915.3:c.3450_3452del	ENSP00000473355.2:p.Glu1150del
ENST00000505350.2:c.*3402_*3404del	ENSP00000481752.1:n.*3402_*3404del
ENST00000507379.6:c.3342_3344del	ENSP00000423224.2:p.Glu1114del
ENST00000509732.6:c.3396_3398del	ENSP00000426541.2:p.Glu1132del
ENST00000512211.7:c.3396_3398del	ENSP00000423828.3:p.Glu1132del
ENST00000257430.9:c.3396_3398del MANE Select	ENSP00000257430.4:p.Glu1132del
ENST00000257430.8:c.3396_3398del	ENSP00000257430.4:p.Glu1132del
ENST00000502371.2:c.1749_1751del
ENST00000507379.5:c.3342_3344del	ENSP00000423224.1:p.Glu1114del
ENST00000508376.6:c.3396_3398del	ENSP00000427089.2:p.Glu1132del
ENST00000508624.5:c.*2718_*2720del	ENSP00000424265.1:n.*2718_*2720del
ENST00000512211.6:c.3396_3398del	ENSP00000423828.2:p.Glu1132del
ENST00000520401.1:c.230+10018_230+10020del
NM_000038.5:c.3396_3398del	NP_000029.2:p.Glu1132del
NM_001127510.2:c.3396_3398del	NP_001120982.1:p.Glu1132del
NM_001127511.2:c.3342_3344del	NP_001120983.2:p.Glu1114del
NM_001354895.1:c.3396_3398del	NP_001341824.1:p.Glu1132del
NM_001354896.1:c.3450_3452del	NP_001341825.1:p.Glu1150del
NM_001354897.1:c.3426_3428del	NP_001341826.1:p.Glu1142del
NM_001354898.1:c.3321_3323del	NP_001341827.1:p.Glu1107del
NM_001354899.1:c.3312_3314del	NP_001341828.1:p.Glu1104del
NM_001354900.1:c.3273_3275del	NP_001341829.1:p.Glu1091del
NM_001354901.1:c.3219_3221del	NP_001341830.1:p.Glu1073del
NM_001354902.1:c.3123_3125del	NP_001341831.1:p.Glu1041del
NM_001354903.1:c.3093_3095del	NP_001341832.1:p.Glu1031del
NM_001354904.1:c.3018_3020del	NP_001341833.1:p.Glu1006del
NM_001354905.1:c.2916_2918del	NP_001341834.1:p.Glu972del
NM_001354906.1:c.2547_2549del	NP_001341835.1:p.Glu849del
NM_000038.6:c.3396_3398del MANE Select	NP_000029.2:p.Glu1132del
NM_001127510.3:c.3396_3398del	NP_001120982.1:p.Glu1132del
NM_001127511.3:c.3342_3344del	NP_001120983.2:p.Glu1114del
NM_001354895.2:c.3396_3398del	NP_001341824.1:p.Glu1132del
NM_001354896.2:c.3450_3452del	NP_001341825.1:p.Glu1150del
NM_001354897.2:c.3426_3428del	NP_001341826.1:p.Glu1142del
NM_001354898.2:c.3321_3323del	NP_001341827.1:p.Glu1107del
NM_001354899.2:c.3312_3314del	NP_001341828.1:p.Glu1104del
NM_001354900.2:c.3273_3275del	NP_001341829.1:p.Glu1091del
NM_001354901.2:c.3219_3221del	NP_001341830.1:p.Glu1073del
NM_001354902.2:c.3123_3125del	NP_001341831.1:p.Glu1041del
NM_001354903.2:c.3093_3095del	NP_001341832.1:p.Glu1031del
NM_001354904.2:c.3018_3020del	NP_001341833.1:p.Glu1006del
NM_001354905.2:c.2916_2918del	NP_001341834.1:p.Glu972del
NM_001354906.2:c.2547_2549del	NP_001341835.1:p.Glu849del