Canonical Allele Identifier: CA891843024

Gene: APC

Linked Data

• ClinVar Variation Id: 576456
• ClinVar RCV Id: RCV001187932 ; RCV002533547 ; RCV003534672
• dbSNP Id: rs1561598600
• gnomAD v4: 5-112840829-GATA-G
• MyVariant Identifiers: chr5:g.112176529_112176531del (hg19) ; chr5:g.112840832_112840834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840832_112840834del , CM000667.2:g.112840832_112840834del	GRCh38
NC_000005.9:g.112176529_112176531del , CM000667.1:g.112176529_112176531del	GRCh37
NC_000005.8:g.112204428_112204430del	NCBI36
NG_008481.4:g.153312_153314del , LRG_130:g.153312_153314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5292_5294del	ENSP00000473355.2:p.Ile1764del
ENST00000505350.2:c.*5244_*5246del	ENSP00000481752.1:n.*5244_*5246del
ENST00000507379.6:c.5184_5186del	ENSP00000423224.2:p.Ile1728del
ENST00000509732.6:c.5238_5240del	ENSP00000426541.2:p.Ile1746del
ENST00000512211.7:c.5238_5240del	ENSP00000423828.3:p.Ile1746del
ENST00000257430.9:c.5238_5240del MANE Select	ENSP00000257430.4:p.Ile1746del
ENST00000257430.8:c.5238_5240del	ENSP00000257430.4:p.Ile1746del
ENST00000508376.6:c.5238_5240del	ENSP00000427089.2:p.Ile1746del
ENST00000508624.5:c.*4560_*4562del	ENSP00000424265.1:n.*4560_*4562del
ENST00000520401.1:c.230+11860_230+11862del
NM_000038.5:c.5238_5240del	NP_000029.2:p.Ile1746del
NM_001127510.2:c.5238_5240del	NP_001120982.1:p.Ile1746del
NM_001127511.2:c.5184_5186del	NP_001120983.2:p.Ile1728del
NM_001354895.1:c.5238_5240del	NP_001341824.1:p.Ile1746del
NM_001354896.1:c.5292_5294del	NP_001341825.1:p.Ile1764del
NM_001354897.1:c.5268_5270del	NP_001341826.1:p.Ile1756del
NM_001354898.1:c.5163_5165del	NP_001341827.1:p.Ile1721del
NM_001354899.1:c.5154_5156del	NP_001341828.1:p.Ile1718del
NM_001354900.1:c.5115_5117del	NP_001341829.1:p.Ile1705del
NM_001354901.1:c.5061_5063del	NP_001341830.1:p.Ile1687del
NM_001354902.1:c.4965_4967del	NP_001341831.1:p.Ile1655del
NM_001354903.1:c.4935_4937del	NP_001341832.1:p.Ile1645del
NM_001354904.1:c.4860_4862del	NP_001341833.1:p.Ile1620del
NM_001354905.1:c.4758_4760del	NP_001341834.1:p.Ile1586del
NM_001354906.1:c.4389_4391del	NP_001341835.1:p.Ile1463del
NM_000038.6:c.5238_5240del MANE Select	NP_000029.2:p.Ile1746del
NM_001127510.3:c.5238_5240del	NP_001120982.1:p.Ile1746del
NM_001127511.3:c.5184_5186del	NP_001120983.2:p.Ile1728del
NM_001354895.2:c.5238_5240del	NP_001341824.1:p.Ile1746del
NM_001354896.2:c.5292_5294del	NP_001341825.1:p.Ile1764del
NM_001354897.2:c.5268_5270del	NP_001341826.1:p.Ile1756del
NM_001354898.2:c.5163_5165del	NP_001341827.1:p.Ile1721del
NM_001354899.2:c.5154_5156del	NP_001341828.1:p.Ile1718del
NM_001354900.2:c.5115_5117del	NP_001341829.1:p.Ile1705del
NM_001354901.2:c.5061_5063del	NP_001341830.1:p.Ile1687del
NM_001354902.2:c.4965_4967del	NP_001341831.1:p.Ile1655del
NM_001354903.2:c.4935_4937del	NP_001341832.1:p.Ile1645del
NM_001354904.2:c.4860_4862del	NP_001341833.1:p.Ile1620del
NM_001354905.2:c.4758_4760del	NP_001341834.1:p.Ile1586del
NM_001354906.2:c.4389_4391del	NP_001341835.1:p.Ile1463del