Canonical Allele Identifier: CA2674856040

Gene: APC

Linked Data

• gnomAD v4: 5-112840609-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840612_112840614del , CM000667.2:g.112840612_112840614del	GRCh38
NC_000005.9:g.112176309_112176311del , CM000667.1:g.112176309_112176311del	GRCh37
NC_000005.8:g.112204208_112204210del	NCBI36
NG_008481.4:g.153092_153094del , LRG_130:g.153092_153094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5072_5074del	ENSP00000473355.2:p.Glu1691del
ENST00000505350.2:c.*5024_*5026del	ENSP00000481752.1:n.*5024_*5026del
ENST00000507379.6:c.4964_4966del	ENSP00000423224.2:p.Glu1655del
ENST00000509732.6:c.5018_5020del	ENSP00000426541.2:p.Glu1673del
ENST00000512211.7:c.5018_5020del	ENSP00000423828.3:p.Glu1673del
ENST00000257430.9:c.5018_5020del MANE Select	ENSP00000257430.4:p.Glu1673del
ENST00000257430.8:c.5018_5020del	ENSP00000257430.4:p.Glu1673del
ENST00000508376.6:c.5018_5020del	ENSP00000427089.2:p.Glu1673del
ENST00000508624.5:c.*4340_*4342del	ENSP00000424265.1:n.*4340_*4342del
ENST00000520401.1:c.230+11640_230+11642del
NM_000038.5:c.5018_5020del	NP_000029.2:p.Glu1673del
NM_001127510.2:c.5018_5020del	NP_001120982.1:p.Glu1673del
NM_001127511.2:c.4964_4966del	NP_001120983.2:p.Glu1655del
NM_001354895.1:c.5018_5020del	NP_001341824.1:p.Glu1673del
NM_001354896.1:c.5072_5074del	NP_001341825.1:p.Glu1691del
NM_001354897.1:c.5048_5050del	NP_001341826.1:p.Glu1683del
NM_001354898.1:c.4943_4945del	NP_001341827.1:p.Glu1648del
NM_001354899.1:c.4934_4936del	NP_001341828.1:p.Glu1645del
NM_001354900.1:c.4895_4897del	NP_001341829.1:p.Glu1632del
NM_001354901.1:c.4841_4843del	NP_001341830.1:p.Glu1614del
NM_001354902.1:c.4745_4747del	NP_001341831.1:p.Glu1582del
NM_001354903.1:c.4715_4717del	NP_001341832.1:p.Glu1572del
NM_001354904.1:c.4640_4642del	NP_001341833.1:p.Glu1547del
NM_001354905.1:c.4538_4540del	NP_001341834.1:p.Glu1513del
NM_001354906.1:c.4169_4171del	NP_001341835.1:p.Glu1390del
NM_000038.6:c.5018_5020del MANE Select	NP_000029.2:p.Glu1673del
NM_001127510.3:c.5018_5020del	NP_001120982.1:p.Glu1673del
NM_001127511.3:c.4964_4966del	NP_001120983.2:p.Glu1655del
NM_001354895.2:c.5018_5020del	NP_001341824.1:p.Glu1673del
NM_001354896.2:c.5072_5074del	NP_001341825.1:p.Glu1691del
NM_001354897.2:c.5048_5050del	NP_001341826.1:p.Glu1683del
NM_001354898.2:c.4943_4945del	NP_001341827.1:p.Glu1648del
NM_001354899.2:c.4934_4936del	NP_001341828.1:p.Glu1645del
NM_001354900.2:c.4895_4897del	NP_001341829.1:p.Glu1632del
NM_001354901.2:c.4841_4843del	NP_001341830.1:p.Glu1614del
NM_001354902.2:c.4745_4747del	NP_001341831.1:p.Glu1582del
NM_001354903.2:c.4715_4717del	NP_001341832.1:p.Glu1572del
NM_001354904.2:c.4640_4642del	NP_001341833.1:p.Glu1547del
NM_001354905.2:c.4538_4540del	NP_001341834.1:p.Glu1513del
NM_001354906.2:c.4169_4171del	NP_001341835.1:p.Glu1390del