Canonical Allele Identifier: CA658760546

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834955_112834963del , CM000667.2:g.112834955_112834963del	GRCh38
NC_000005.9:g.112170652_112170660del , CM000667.1:g.112170652_112170660del	GRCh37
NC_000005.8:g.112198551_112198559del	NCBI36
NG_008481.4:g.147435_147443del , LRG_130:g.147435_147443del

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.1748_1756del MANE Select	NP_000029.2:p.Ser583Ter
ENST00000257430.9:c.1748_1756del MANE Select	ENSP00000257430.4:p.Ser583Ter
NM_000038.5:c.1748_1756del	NP_000029.2:p.Ser583Ter
NM_001127510.2:c.1748_1756del	NP_001120982.1:p.Ser583Ter
NM_001127510.3:c.1748_1756del	NP_001120982.1:p.Ser583Ter
NM_001127511.2:c.1694_1702del	NP_001120983.2:p.Ser565Ter
NM_001127511.3:c.1694_1702del	NP_001120983.2:p.Ser565Ter
NM_001354895.1:c.1748_1756del	NP_001341824.1:p.Ser583Ter
NM_001354895.2:c.1748_1756del	NP_001341824.1:p.Ser583Ter
NM_001354896.1:c.1802_1810del	NP_001341825.1:p.Ser601Ter
NM_001354896.2:c.1802_1810del	NP_001341825.1:p.Ser601Ter
NM_001354897.1:c.1778_1786del	NP_001341826.1:p.Ser593Ter
NM_001354897.2:c.1778_1786del	NP_001341826.1:p.Ser593Ter
NM_001354898.1:c.1673_1681del	NP_001341827.1:p.Ser558Ter
NM_001354898.2:c.1673_1681del	NP_001341827.1:p.Ser558Ter
NM_001354899.1:c.1664_1672del	NP_001341828.1:p.Ser555Ter
NM_001354899.2:c.1664_1672del	NP_001341828.1:p.Ser555Ter
NM_001354900.1:c.1625_1633del	NP_001341829.1:p.Ser542Ter
NM_001354900.2:c.1625_1633del	NP_001341829.1:p.Ser542Ter
NM_001354901.1:c.1571_1579del	NP_001341830.1:p.Ser524Ter
NM_001354901.2:c.1571_1579del	NP_001341830.1:p.Ser524Ter
NM_001354902.1:c.1475_1483del	NP_001341831.1:p.Ser492Ter
NM_001354902.2:c.1475_1483del	NP_001341831.1:p.Ser492Ter
NM_001354903.1:c.1445_1453del	NP_001341832.1:p.Ser482Ter
NM_001354903.2:c.1445_1453del	NP_001341832.1:p.Ser482Ter
NM_001354904.1:c.1370_1378del	NP_001341833.1:p.Ser457Ter
NM_001354904.2:c.1370_1378del	NP_001341833.1:p.Ser457Ter
NM_001354905.1:c.1268_1276del	NP_001341834.1:p.Ser423Ter
NM_001354905.2:c.1268_1276del	NP_001341834.1:p.Ser423Ter
NM_001354906.1:c.899_907del	NP_001341835.1:p.Ser300Ter
NM_001354906.2:c.899_907del	NP_001341835.1:p.Ser300Ter
ENST00000257430.8:c.1748_1756del	ENSP00000257430.4:p.Ser583Ter
ENST00000502371.2:c.101_109del
ENST00000502371.3:c.1413_1421del	ENSP00000484935.2:p.Asn472_Gln474del
ENST00000504915.2:c.437_445del	ENSP00000473355.1:p.Ser146Ter
ENST00000504915.3:c.1802_1810del	ENSP00000473355.2:p.Ser601Ter
ENST00000505350.2:c.*1754_*1762del	ENSP00000481752.1:n.*1754_*1762del
ENST00000507379.5:c.1694_1702del	ENSP00000423224.1:p.Ser565Ter
ENST00000507379.6:c.1694_1702del	ENSP00000423224.2:p.Ser565Ter
ENST00000508376.6:c.1748_1756del	ENSP00000427089.2:p.Ser583Ter
ENST00000508624.5:c.*1070_*1078del	ENSP00000424265.1:n.*1070_*1078del
ENST00000509732.6:c.1748_1756del	ENSP00000426541.2:p.Ser583Ter
ENST00000512211.6:c.1748_1756del	ENSP00000423828.2:p.Ser583Ter
ENST00000512211.7:c.1748_1756del	ENSP00000423828.3:p.Ser583Ter
ENST00000520401.1:c.230+5983_230+5991del