Canonical Allele Identifier: CA10578322

Gene: APC

Linked Data

• ClinVar Variation Id: 231945
• ClinVar RCV Id: RCV000217935
• dbSNP Id: rs876659452
• MyVariant Identifiers: chr5:g.112164580_112164584del (hg19) ; chr5:g.112828883_112828887del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828883_112828887del , CM000667.2:g.112828883_112828887del	GRCh38
NC_000005.9:g.112164580_112164584del , CM000667.1:g.112164580_112164584del	GRCh37
NC_000005.8:g.112192479_112192483del	NCBI36
NG_008481.4:g.141363_141367del , LRG_130:g.141363_141367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6068_1409-6064del	ENSP00000484935.2:n.1409-6068_1409-6064de...
ENST00000504915.3:c.1708_1712del	ENSP00000473355.2:p.Ser570AlafsTer6
ENST00000505084.2:n.1710_1714del
ENST00000505350.2:c.*1660_*1664del	ENSP00000481752.1:n.*1660_*1664del
ENST00000507379.6:c.1600_1604del	ENSP00000423224.2:p.Ser534AlafsTer6
ENST00000509732.6:c.1654_1658del	ENSP00000426541.2:p.Ser552AlafsTer6
ENST00000512211.7:c.1654_1658del	ENSP00000423828.3:p.Ser552AlafsTer6
ENST00000257430.9:c.1654_1658del MANE Select	ENSP00000257430.4:p.Ser552AlafsTer6
ENST00000257430.8:c.1654_1658del	ENSP00000257430.4:p.Ser552AlafsTer6
ENST00000502371.2:c.97-6068_97-6064del
ENST00000504915.2:c.343_347del	ENSP00000473355.1:p.Ser115AlafsTer6
ENST00000505084.1:n.141_145del
ENST00000507379.5:c.1600_1604del	ENSP00000423224.1:p.Ser534AlafsTer6
ENST00000508376.6:c.1654_1658del	ENSP00000427089.2:p.Ser552AlafsTer6
ENST00000508624.5:c.*976_*980del	ENSP00000424265.1:n.*976_*980del
ENST00000512211.6:c.1654_1658del	ENSP00000423828.2:p.Ser552AlafsTer6
ENST00000520401.1:c.141_145del
NM_000038.5:c.1654_1658del	NP_000029.2:p.Ser552AlafsTer6
NM_001127510.2:c.1654_1658del	NP_001120982.1:p.Ser552AlafsTer6
NM_001127511.2:c.1600_1604del	NP_001120983.2:p.Ser534AlafsTer6
NM_001354895.1:c.1654_1658del	NP_001341824.1:p.Ser552AlafsTer6
NM_001354896.1:c.1708_1712del	NP_001341825.1:p.Ser570AlafsTer6
NM_001354897.1:c.1684_1688del	NP_001341826.1:p.Ser562AlafsTer6
NM_001354898.1:c.1579_1583del	NP_001341827.1:p.Ser527AlafsTer6
NM_001354899.1:c.1570_1574del	NP_001341828.1:p.Ser524AlafsTer6
NM_001354900.1:c.1531_1535del	NP_001341829.1:p.Ser511AlafsTer6
NM_001354901.1:c.1477_1481del	NP_001341830.1:p.Ser493AlafsTer6
NM_001354902.1:c.1381_1385del	NP_001341831.1:p.Ser461AlafsTer6
NM_001354903.1:c.1351_1355del	NP_001341832.1:p.Ser451AlafsTer6
NM_001354904.1:c.1276_1280del	NP_001341833.1:p.Ser426AlafsTer6
NM_001354905.1:c.1174_1178del	NP_001341834.1:p.Ser392AlafsTer6
NM_001354906.1:c.805_809del	NP_001341835.1:p.Ser269AlafsTer6
NM_000038.6:c.1654_1658del MANE Select	NP_000029.2:p.Ser552AlafsTer6
NM_001127510.3:c.1654_1658del	NP_001120982.1:p.Ser552AlafsTer6
NM_001127511.3:c.1600_1604del	NP_001120983.2:p.Ser534AlafsTer6
NM_001354895.2:c.1654_1658del	NP_001341824.1:p.Ser552AlafsTer6
NM_001354896.2:c.1708_1712del	NP_001341825.1:p.Ser570AlafsTer6
NM_001354897.2:c.1684_1688del	NP_001341826.1:p.Ser562AlafsTer6
NM_001354898.2:c.1579_1583del	NP_001341827.1:p.Ser527AlafsTer6
NM_001354899.2:c.1570_1574del	NP_001341828.1:p.Ser524AlafsTer6
NM_001354900.2:c.1531_1535del	NP_001341829.1:p.Ser511AlafsTer6
NM_001354901.2:c.1477_1481del	NP_001341830.1:p.Ser493AlafsTer6
NM_001354902.2:c.1381_1385del	NP_001341831.1:p.Ser461AlafsTer6
NM_001354903.2:c.1351_1355del	NP_001341832.1:p.Ser451AlafsTer6
NM_001354904.2:c.1276_1280del	NP_001341833.1:p.Ser426AlafsTer6
NM_001354905.2:c.1174_1178del	NP_001341834.1:p.Ser392AlafsTer6
NM_001354906.2:c.805_809del	NP_001341835.1:p.Ser269AlafsTer6