Canonical Allele Identifier: CA2674856498

Gene: APC

Linked Data

• gnomAD v4: 5-112828864-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828865_112828866insAA , CM000667.2:g.112828865_112828866insAA	GRCh38
NC_000005.9:g.112164562_112164563insAA , CM000667.1:g.112164562_112164563insAA	GRCh37
NC_000005.8:g.112192461_112192462insAA	NCBI36
NG_008481.4:g.141345_141346insAA , LRG_130:g.141345_141346insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6086_1409-6085insAA	ENSP00000484935.2:n.1409-6086_1409-6085in...
ENST00000504915.3:c.1690_1691insAA	ENSP00000473355.2:p.Ser564LysfsTer4
ENST00000505084.2:n.1692_1693insAA
ENST00000505350.2:c.*1642_*1643insAA	ENSP00000481752.1:n.*1642_*1643insAA
ENST00000507379.6:c.1582_1583insAA	ENSP00000423224.2:p.Ser528LysfsTer4
ENST00000509732.6:c.1636_1637insAA	ENSP00000426541.2:p.Ser546LysfsTer4
ENST00000512211.7:c.1636_1637insAA	ENSP00000423828.3:p.Ser546LysfsTer4
ENST00000257430.9:c.1636_1637insAA MANE Select	ENSP00000257430.4:p.Ser546LysfsTer4
ENST00000257430.8:c.1636_1637insAA	ENSP00000257430.4:p.Ser546LysfsTer4
ENST00000502371.2:c.97-6086_97-6085insAA
ENST00000504915.2:c.325_326insAA	ENSP00000473355.1:p.Ser109LysfsTer4
ENST00000505084.1:n.123_124insAA
ENST00000507379.5:c.1582_1583insAA	ENSP00000423224.1:p.Ser528LysfsTer4
ENST00000508376.6:c.1636_1637insAA	ENSP00000427089.2:p.Ser546LysfsTer4
ENST00000508624.5:c.*958_*959insAA	ENSP00000424265.1:n.*958_*959insAA
ENST00000512211.6:c.1636_1637insAA	ENSP00000423828.2:p.Ser546LysfsTer4
ENST00000520401.1:c.123_124insAA
NM_000038.5:c.1636_1637insAA	NP_000029.2:p.Ser546LysfsTer4
NM_001127510.2:c.1636_1637insAA	NP_001120982.1:p.Ser546LysfsTer4
NM_001127511.2:c.1582_1583insAA	NP_001120983.2:p.Ser528LysfsTer4
NM_001354895.1:c.1636_1637insAA	NP_001341824.1:p.Ser546LysfsTer4
NM_001354896.1:c.1690_1691insAA	NP_001341825.1:p.Ser564LysfsTer4
NM_001354897.1:c.1666_1667insAA	NP_001341826.1:p.Ser556LysfsTer4
NM_001354898.1:c.1561_1562insAA	NP_001341827.1:p.Ser521LysfsTer4
NM_001354899.1:c.1552_1553insAA	NP_001341828.1:p.Ser518LysfsTer4
NM_001354900.1:c.1513_1514insAA	NP_001341829.1:p.Ser505LysfsTer4
NM_001354901.1:c.1459_1460insAA	NP_001341830.1:p.Ser487LysfsTer4
NM_001354902.1:c.1363_1364insAA	NP_001341831.1:p.Ser455LysfsTer4
NM_001354903.1:c.1333_1334insAA	NP_001341832.1:p.Ser445LysfsTer4
NM_001354904.1:c.1258_1259insAA	NP_001341833.1:p.Ser420LysfsTer4
NM_001354905.1:c.1156_1157insAA	NP_001341834.1:p.Ser386LysfsTer4
NM_001354906.1:c.787_788insAA	NP_001341835.1:p.Ser263LysfsTer4
NM_000038.6:c.1636_1637insAA MANE Select	NP_000029.2:p.Ser546LysfsTer4
NM_001127510.3:c.1636_1637insAA	NP_001120982.1:p.Ser546LysfsTer4
NM_001127511.3:c.1582_1583insAA	NP_001120983.2:p.Ser528LysfsTer4
NM_001354895.2:c.1636_1637insAA	NP_001341824.1:p.Ser546LysfsTer4
NM_001354896.2:c.1690_1691insAA	NP_001341825.1:p.Ser564LysfsTer4
NM_001354897.2:c.1666_1667insAA	NP_001341826.1:p.Ser556LysfsTer4
NM_001354898.2:c.1561_1562insAA	NP_001341827.1:p.Ser521LysfsTer4
NM_001354899.2:c.1552_1553insAA	NP_001341828.1:p.Ser518LysfsTer4
NM_001354900.2:c.1513_1514insAA	NP_001341829.1:p.Ser505LysfsTer4
NM_001354901.2:c.1459_1460insAA	NP_001341830.1:p.Ser487LysfsTer4
NM_001354902.2:c.1363_1364insAA	NP_001341831.1:p.Ser455LysfsTer4
NM_001354903.2:c.1333_1334insAA	NP_001341832.1:p.Ser445LysfsTer4
NM_001354904.2:c.1258_1259insAA	NP_001341833.1:p.Ser420LysfsTer4
NM_001354905.2:c.1156_1157insAA	NP_001341834.1:p.Ser386LysfsTer4
NM_001354906.2:c.787_788insAA	NP_001341835.1:p.Ser263LysfsTer4