Canonical Allele Identifier: CA3261345284
Community Standard Title: NM_000038.6(APC):c.5916_6089del (p.Asp1974_Ser2031del)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841510_112841683del , CM000667.2:g.112841510_112841683del GRCh38
NC_000005.9:g.112177207_112177380del , CM000667.1:g.112177207_112177380del GRCh37
NC_000005.8:g.112205106_112205279del NCBI36
NG_008481.4:g.153990_154163del , LRG_130:g.153990_154163del

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.5916_6089del MANE Select NP_000029.2:p.Ser1973_Leu2030del
ENST00000257430.9:c.5916_6089del MANE Select ENSP00000257430.4:p.Ser1973_Leu2030del
NM_000038.5:c.5916_6089del NP_000029.2:p.Ser1973_Leu2030del
NM_001127510.2:c.5916_6089del NP_001120982.1:p.Ser1973_Leu2030del
NM_001127510.3:c.5916_6089del NP_001120982.1:p.Ser1973_Leu2030del
NM_001127511.2:c.5862_6035del NP_001120983.2:p.Ser1955_Leu2012del
NM_001127511.3:c.5862_6035del NP_001120983.2:p.Ser1955_Leu2012del
NM_001354895.1:c.5916_6089del NP_001341824.1:p.Ser1973_Leu2030del
NM_001354895.2:c.5916_6089del NP_001341824.1:p.Ser1973_Leu2030del
NM_001354896.1:c.5970_6143del NP_001341825.1:p.Ser1991_Leu2048del
NM_001354896.2:c.5970_6143del NP_001341825.1:p.Ser1991_Leu2048del
NM_001354897.1:c.5946_6119del NP_001341826.1:p.Ser1983_Leu2040del
NM_001354897.2:c.5946_6119del NP_001341826.1:p.Ser1983_Leu2040del
NM_001354898.1:c.5841_6014del NP_001341827.1:p.Ser1948_Leu2005del
NM_001354898.2:c.5841_6014del NP_001341827.1:p.Ser1948_Leu2005del
NM_001354899.1:c.5832_6005del NP_001341828.1:p.Ser1945_Leu2002del
NM_001354899.2:c.5832_6005del NP_001341828.1:p.Ser1945_Leu2002del
NM_001354900.1:c.5793_5966del NP_001341829.1:p.Ser1932_Leu1989del
NM_001354900.2:c.5793_5966del NP_001341829.1:p.Ser1932_Leu1989del
NM_001354901.1:c.5739_5912del NP_001341830.1:p.Ser1914_Leu1971del
NM_001354901.2:c.5739_5912del NP_001341830.1:p.Ser1914_Leu1971del
NM_001354902.1:c.5643_5816del NP_001341831.1:p.Ser1882_Leu1939del
NM_001354902.2:c.5643_5816del NP_001341831.1:p.Ser1882_Leu1939del
NM_001354903.1:c.5613_5786del NP_001341832.1:p.Ser1872_Leu1929del
NM_001354903.2:c.5613_5786del NP_001341832.1:p.Ser1872_Leu1929del
NM_001354904.1:c.5538_5711del NP_001341833.1:p.Ser1847_Leu1904del
NM_001354904.2:c.5538_5711del NP_001341833.1:p.Ser1847_Leu1904del
NM_001354905.1:c.5436_5609del NP_001341834.1:p.Ser1813_Leu1870del
NM_001354905.2:c.5436_5609del NP_001341834.1:p.Ser1813_Leu1870del
NM_001354906.1:c.5067_5240del NP_001341835.1:p.Ser1690_Leu1747del
NM_001354906.2:c.5067_5240del NP_001341835.1:p.Ser1690_Leu1747del
ENST00000257430.8:c.5916_6089del ENSP00000257430.4:p.Ser1973_Leu2030del
ENST00000504915.3:c.5970_6143del ENSP00000473355.2:p.Ser1991_Leu2048del
ENST00000505350.2:c.*5922_*6095del ENSP00000481752.1:n.*5922_*6095del
ENST00000507379.6:c.5862_6035del ENSP00000423224.2:p.Ser1955_Leu2012del
ENST00000508376.6:c.5916_6089del ENSP00000427089.2:p.Ser1973_Leu2030del
ENST00000508624.5:c.*5238_*5411del ENSP00000424265.1:n.*5238_*5411del
ENST00000509732.6:c.5916_6089del ENSP00000426541.2:p.Ser1973_Leu2030del
ENST00000512211.7:c.5916_6089del ENSP00000423828.3:p.Ser1973_Leu2030del
ENST00000520401.1:c.230+12538_230+12711del