Canonical Allele Identifier: CA645369359

Gene: APC

Linked Data

• ClinVar Variation Id: 428161
• ClinVar RCV Id: RCV000491461
• dbSNP Id: rs1554083990
• MyVariant Identifiers: chr5:g.112173476_112173627del (hg19) ; chr5:g.112837779_112837930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837779_112837930del , CM000667.2:g.112837779_112837930del	GRCh38
NC_000005.9:g.112173476_112173627del , CM000667.1:g.112173476_112173627del	GRCh37
NC_000005.8:g.112201375_112201526del	NCBI36
NG_008481.4:g.150259_150410del , LRG_130:g.150259_150410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1850_2001del	ENSP00000484935.2:n.1850_2001del
ENST00000504915.3:c.2239_2390del	ENSP00000473355.2:p.Leu747LysfsTer8
ENST00000505350.2:c.*2191_*2342del	ENSP00000481752.1:n.*2191_*2342del
ENST00000507379.6:c.2131_2282del	ENSP00000423224.2:p.Leu711LysfsTer8
ENST00000509732.6:c.2185_2336del	ENSP00000426541.2:p.Leu729LysfsTer8
ENST00000512211.7:c.2185_2336del	ENSP00000423828.3:p.Leu729LysfsTer8
ENST00000257430.9:c.2185_2336del MANE Select	ENSP00000257430.4:p.Leu729LysfsTer8
ENST00000257430.8:c.2185_2336del	ENSP00000257430.4:p.Leu729LysfsTer8
ENST00000502371.2:c.538_689del
ENST00000507379.5:c.2131_2282del	ENSP00000423224.1:p.Leu711LysfsTer8
ENST00000508376.6:c.2185_2336del	ENSP00000427089.2:p.Leu729LysfsTer8
ENST00000508624.5:c.*1507_*1658del	ENSP00000424265.1:n.*1507_*1658del
ENST00000512211.6:c.2185_2336del	ENSP00000423828.2:p.Leu729LysfsTer8
ENST00000520401.1:c.230+8807_230+8958del
NM_000038.5:c.2185_2336del	NP_000029.2:p.Leu729LysfsTer8
NM_001127510.2:c.2185_2336del	NP_001120982.1:p.Leu729LysfsTer8
NM_001127511.2:c.2131_2282del	NP_001120983.2:p.Leu711LysfsTer8
NM_001354895.1:c.2185_2336del	NP_001341824.1:p.Leu729LysfsTer8
NM_001354896.1:c.2239_2390del	NP_001341825.1:p.Leu747LysfsTer8
NM_001354897.1:c.2215_2366del	NP_001341826.1:p.Leu739LysfsTer8
NM_001354898.1:c.2110_2261del	NP_001341827.1:p.Leu704LysfsTer8
NM_001354899.1:c.2101_2252del	NP_001341828.1:p.Leu701LysfsTer8
NM_001354900.1:c.2062_2213del	NP_001341829.1:p.Leu688LysfsTer8
NM_001354901.1:c.2008_2159del	NP_001341830.1:p.Leu670LysfsTer8
NM_001354902.1:c.1912_2063del	NP_001341831.1:p.Leu638LysfsTer8
NM_001354903.1:c.1882_2033del	NP_001341832.1:p.Leu628LysfsTer8
NM_001354904.1:c.1807_1958del	NP_001341833.1:p.Leu603LysfsTer8
NM_001354905.1:c.1705_1856del	NP_001341834.1:p.Leu569LysfsTer8
NM_001354906.1:c.1336_1487del	NP_001341835.1:p.Leu446LysfsTer8
NM_000038.6:c.2185_2336del MANE Select	NP_000029.2:p.Leu729LysfsTer8
NM_001127510.3:c.2185_2336del	NP_001120982.1:p.Leu729LysfsTer8
NM_001127511.3:c.2131_2282del	NP_001120983.2:p.Leu711LysfsTer8
NM_001354895.2:c.2185_2336del	NP_001341824.1:p.Leu729LysfsTer8
NM_001354896.2:c.2239_2390del	NP_001341825.1:p.Leu747LysfsTer8
NM_001354897.2:c.2215_2366del	NP_001341826.1:p.Leu739LysfsTer8
NM_001354898.2:c.2110_2261del	NP_001341827.1:p.Leu704LysfsTer8
NM_001354899.2:c.2101_2252del	NP_001341828.1:p.Leu701LysfsTer8
NM_001354900.2:c.2062_2213del	NP_001341829.1:p.Leu688LysfsTer8
NM_001354901.2:c.2008_2159del	NP_001341830.1:p.Leu670LysfsTer8
NM_001354902.2:c.1912_2063del	NP_001341831.1:p.Leu638LysfsTer8
NM_001354903.2:c.1882_2033del	NP_001341832.1:p.Leu628LysfsTer8
NM_001354904.2:c.1807_1958del	NP_001341833.1:p.Leu603LysfsTer8
NM_001354905.2:c.1705_1856del	NP_001341834.1:p.Leu569LysfsTer8
NM_001354906.2:c.1336_1487del	NP_001341835.1:p.Leu446LysfsTer8