Canonical Allele Identifier: CA891843025

Gene: APC

Linked Data

• ClinVar Variation Id: 569926
• ClinVar RCV Id: RCV003534589
• dbSNP Id: rs1561599054
• MyVariant Identifiers: chr5:g.112176584_112176587del (hg19) ; chr5:g.112840887_112840890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840887_112840890del , CM000667.2:g.112840887_112840890del	GRCh38
NC_000005.9:g.112176584_112176587del , CM000667.1:g.112176584_112176587del	GRCh37
NC_000005.8:g.112204483_112204486del	NCBI36
NG_008481.4:g.153367_153370del , LRG_130:g.153367_153370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5347_5350del	ENSP00000473355.2:p.Leu1783MetfsTer11
ENST00000505350.2:c.*5299_*5302del	ENSP00000481752.1:n.*5299_*5302del
ENST00000507379.6:c.5239_5242del	ENSP00000423224.2:p.Leu1747MetfsTer11
ENST00000509732.6:c.5293_5296del	ENSP00000426541.2:p.Leu1765MetfsTer11
ENST00000512211.7:c.5293_5296del	ENSP00000423828.3:p.Leu1765MetfsTer11
ENST00000257430.9:c.5293_5296del MANE Select	ENSP00000257430.4:p.Leu1765MetfsTer11
ENST00000257430.8:c.5293_5296del	ENSP00000257430.4:p.Leu1765MetfsTer11
ENST00000508376.6:c.5293_5296del	ENSP00000427089.2:p.Leu1765MetfsTer11
ENST00000508624.5:c.*4615_*4618del	ENSP00000424265.1:n.*4615_*4618del
ENST00000520401.1:c.230+11915_230+11918del
NM_000038.5:c.5293_5296del	NP_000029.2:p.Leu1765MetfsTer11
NM_001127510.2:c.5293_5296del	NP_001120982.1:p.Leu1765MetfsTer11
NM_001127511.2:c.5239_5242del	NP_001120983.2:p.Leu1747MetfsTer11
NM_001354895.1:c.5293_5296del	NP_001341824.1:p.Leu1765MetfsTer11
NM_001354896.1:c.5347_5350del	NP_001341825.1:p.Leu1783MetfsTer11
NM_001354897.1:c.5323_5326del	NP_001341826.1:p.Leu1775MetfsTer11
NM_001354898.1:c.5218_5221del	NP_001341827.1:p.Leu1740MetfsTer11
NM_001354899.1:c.5209_5212del	NP_001341828.1:p.Leu1737MetfsTer11
NM_001354900.1:c.5170_5173del	NP_001341829.1:p.Leu1724MetfsTer11
NM_001354901.1:c.5116_5119del	NP_001341830.1:p.Leu1706MetfsTer11
NM_001354902.1:c.5020_5023del	NP_001341831.1:p.Leu1674MetfsTer11
NM_001354903.1:c.4990_4993del	NP_001341832.1:p.Leu1664MetfsTer11
NM_001354904.1:c.4915_4918del	NP_001341833.1:p.Leu1639MetfsTer11
NM_001354905.1:c.4813_4816del	NP_001341834.1:p.Leu1605MetfsTer11
NM_001354906.1:c.4444_4447del	NP_001341835.1:p.Leu1482MetfsTer11
NM_000038.6:c.5293_5296del MANE Select	NP_000029.2:p.Leu1765MetfsTer11
NM_001127510.3:c.5293_5296del	NP_001120982.1:p.Leu1765MetfsTer11
NM_001127511.3:c.5239_5242del	NP_001120983.2:p.Leu1747MetfsTer11
NM_001354895.2:c.5293_5296del	NP_001341824.1:p.Leu1765MetfsTer11
NM_001354896.2:c.5347_5350del	NP_001341825.1:p.Leu1783MetfsTer11
NM_001354897.2:c.5323_5326del	NP_001341826.1:p.Leu1775MetfsTer11
NM_001354898.2:c.5218_5221del	NP_001341827.1:p.Leu1740MetfsTer11
NM_001354899.2:c.5209_5212del	NP_001341828.1:p.Leu1737MetfsTer11
NM_001354900.2:c.5170_5173del	NP_001341829.1:p.Leu1724MetfsTer11
NM_001354901.2:c.5116_5119del	NP_001341830.1:p.Leu1706MetfsTer11
NM_001354902.2:c.5020_5023del	NP_001341831.1:p.Leu1674MetfsTer11
NM_001354903.2:c.4990_4993del	NP_001341832.1:p.Leu1664MetfsTer11
NM_001354904.2:c.4915_4918del	NP_001341833.1:p.Leu1639MetfsTer11
NM_001354905.2:c.4813_4816del	NP_001341834.1:p.Leu1605MetfsTer11
NM_001354906.2:c.4444_4447del	NP_001341835.1:p.Leu1482MetfsTer11