Canonical Allele Identifier: CA3368170

Gene: APC

Linked Data

• ClinVar Variation Id: 411414
• ClinVar RCV Id: RCV000582605 ; RCV000677746 ; RCV000780835 ; RCV003139665 ; RCV003766568
• dbSNP Id: rs768369050
• ExAC: 5:112176316 TAGA / T
• gnomAD v2: 5-112176316-TAGA-T
• gnomAD v3: 5-112840619-TAGA-T
• gnomAD v4: 5-112840619-TAGA-T
• MyVariant Identifiers: chr5:g.112176317_112176319del (hg19) ; chr5:g.112840620_112840622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840620_112840622del , CM000667.2:g.112840620_112840622del	GRCh38
NC_000005.9:g.112176317_112176319del , CM000667.1:g.112176317_112176319del	GRCh37
NC_000005.8:g.112204216_112204218del	NCBI36
NG_008481.4:g.153100_153102del , LRG_130:g.153100_153102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5080_5082del	ENSP00000473355.2:p.Arg1694del
ENST00000505350.2:c.*5032_*5034del	ENSP00000481752.1:n.*5032_*5034del
ENST00000507379.6:c.4972_4974del	ENSP00000423224.2:p.Arg1658del
ENST00000509732.6:c.5026_5028del	ENSP00000426541.2:p.Arg1676del
ENST00000512211.7:c.5026_5028del	ENSP00000423828.3:p.Arg1676del
ENST00000257430.9:c.5026_5028del MANE Select	ENSP00000257430.4:p.Arg1676del
ENST00000257430.8:c.5026_5028del	ENSP00000257430.4:p.Arg1676del
ENST00000508376.6:c.5026_5028del	ENSP00000427089.2:p.Arg1676del
ENST00000508624.5:c.*4348_*4350del	ENSP00000424265.1:n.*4348_*4350del
ENST00000520401.1:c.230+11648_230+11650del
NM_000038.5:c.5026_5028del	NP_000029.2:p.Arg1676del
NM_001127510.2:c.5026_5028del	NP_001120982.1:p.Arg1676del
NM_001127511.2:c.4972_4974del	NP_001120983.2:p.Arg1658del
NM_001354895.1:c.5026_5028del	NP_001341824.1:p.Arg1676del
NM_001354896.1:c.5080_5082del	NP_001341825.1:p.Arg1694del
NM_001354897.1:c.5056_5058del	NP_001341826.1:p.Arg1686del
NM_001354898.1:c.4951_4953del	NP_001341827.1:p.Arg1651del
NM_001354899.1:c.4942_4944del	NP_001341828.1:p.Arg1648del
NM_001354900.1:c.4903_4905del	NP_001341829.1:p.Arg1635del
NM_001354901.1:c.4849_4851del	NP_001341830.1:p.Arg1617del
NM_001354902.1:c.4753_4755del	NP_001341831.1:p.Arg1585del
NM_001354903.1:c.4723_4725del	NP_001341832.1:p.Arg1575del
NM_001354904.1:c.4648_4650del	NP_001341833.1:p.Arg1550del
NM_001354905.1:c.4546_4548del	NP_001341834.1:p.Arg1516del
NM_001354906.1:c.4177_4179del	NP_001341835.1:p.Arg1393del
NM_000038.6:c.5026_5028del MANE Select	NP_000029.2:p.Arg1676del
NM_001127510.3:c.5026_5028del	NP_001120982.1:p.Arg1676del
NM_001127511.3:c.4972_4974del	NP_001120983.2:p.Arg1658del
NM_001354895.2:c.5026_5028del	NP_001341824.1:p.Arg1676del
NM_001354896.2:c.5080_5082del	NP_001341825.1:p.Arg1694del
NM_001354897.2:c.5056_5058del	NP_001341826.1:p.Arg1686del
NM_001354898.2:c.4951_4953del	NP_001341827.1:p.Arg1651del
NM_001354899.2:c.4942_4944del	NP_001341828.1:p.Arg1648del
NM_001354900.2:c.4903_4905del	NP_001341829.1:p.Arg1635del
NM_001354901.2:c.4849_4851del	NP_001341830.1:p.Arg1617del
NM_001354902.2:c.4753_4755del	NP_001341831.1:p.Arg1585del
NM_001354903.2:c.4723_4725del	NP_001341832.1:p.Arg1575del
NM_001354904.2:c.4648_4650del	NP_001341833.1:p.Arg1550del
NM_001354905.2:c.4546_4548del	NP_001341834.1:p.Arg1516del
NM_001354906.2:c.4177_4179del	NP_001341835.1:p.Arg1393del