Canonical Allele Identifier: CA279780

Gene: APC

Linked Data

• ClinVar Variation Id: 217989
• ClinVar RCV Id: RCV000202190
• dbSNP Id: rs863225360
• MyVariant Identifiers: chr5:g.112176039_112176043del (hg19) ; chr5:g.112840342_112840346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840342_112840346del , CM000667.2:g.112840342_112840346del	GRCh38
NC_000005.9:g.112176039_112176043del , CM000667.1:g.112176039_112176043del	GRCh37
NC_000005.8:g.112203938_112203942del	NCBI36
NG_008481.4:g.152822_152826del , LRG_130:g.152822_152826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4802_4806del	ENSP00000473355.2:p.Met1601AsnfsTer6
ENST00000505350.2:c.*4754_*4758del	ENSP00000481752.1:n.*4754_*4758del
ENST00000507379.6:c.4694_4698del	ENSP00000423224.2:p.Met1565AsnfsTer6
ENST00000509732.6:c.4748_4752del	ENSP00000426541.2:p.Met1583AsnfsTer6
ENST00000512211.7:c.4748_4752del	ENSP00000423828.3:p.Met1583AsnfsTer6
ENST00000257430.9:c.4748_4752del MANE Select	ENSP00000257430.4:p.Met1583AsnfsTer6
ENST00000257430.8:c.4748_4752del	ENSP00000257430.4:p.Met1583AsnfsTer6
ENST00000508376.6:c.4748_4752del	ENSP00000427089.2:p.Met1583AsnfsTer6
ENST00000508624.5:c.*4070_*4074del	ENSP00000424265.1:n.*4070_*4074del
ENST00000520401.1:c.230+11370_230+11374del
NM_000038.5:c.4748_4752del	NP_000029.2:p.Met1583AsnfsTer6
NM_001127510.2:c.4748_4752del	NP_001120982.1:p.Met1583AsnfsTer6
NM_001127511.2:c.4694_4698del	NP_001120983.2:p.Met1565AsnfsTer6
NM_001354895.1:c.4748_4752del	NP_001341824.1:p.Met1583AsnfsTer6
NM_001354896.1:c.4802_4806del	NP_001341825.1:p.Met1601AsnfsTer6
NM_001354897.1:c.4778_4782del	NP_001341826.1:p.Met1593AsnfsTer6
NM_001354898.1:c.4673_4677del	NP_001341827.1:p.Met1558AsnfsTer6
NM_001354899.1:c.4664_4668del	NP_001341828.1:p.Met1555AsnfsTer6
NM_001354900.1:c.4625_4629del	NP_001341829.1:p.Met1542AsnfsTer6
NM_001354901.1:c.4571_4575del	NP_001341830.1:p.Met1524AsnfsTer6
NM_001354902.1:c.4475_4479del	NP_001341831.1:p.Met1492AsnfsTer6
NM_001354903.1:c.4445_4449del	NP_001341832.1:p.Met1482AsnfsTer6
NM_001354904.1:c.4370_4374del	NP_001341833.1:p.Met1457AsnfsTer6
NM_001354905.1:c.4268_4272del	NP_001341834.1:p.Met1423AsnfsTer6
NM_001354906.1:c.3899_3903del	NP_001341835.1:p.Met1300AsnfsTer6
NM_000038.6:c.4748_4752del MANE Select	NP_000029.2:p.Met1583AsnfsTer6
NM_001127510.3:c.4748_4752del	NP_001120982.1:p.Met1583AsnfsTer6
NM_001127511.3:c.4694_4698del	NP_001120983.2:p.Met1565AsnfsTer6
NM_001354895.2:c.4748_4752del	NP_001341824.1:p.Met1583AsnfsTer6
NM_001354896.2:c.4802_4806del	NP_001341825.1:p.Met1601AsnfsTer6
NM_001354897.2:c.4778_4782del	NP_001341826.1:p.Met1593AsnfsTer6
NM_001354898.2:c.4673_4677del	NP_001341827.1:p.Met1558AsnfsTer6
NM_001354899.2:c.4664_4668del	NP_001341828.1:p.Met1555AsnfsTer6
NM_001354900.2:c.4625_4629del	NP_001341829.1:p.Met1542AsnfsTer6
NM_001354901.2:c.4571_4575del	NP_001341830.1:p.Met1524AsnfsTer6
NM_001354902.2:c.4475_4479del	NP_001341831.1:p.Met1492AsnfsTer6
NM_001354903.2:c.4445_4449del	NP_001341832.1:p.Met1482AsnfsTer6
NM_001354904.2:c.4370_4374del	NP_001341833.1:p.Met1457AsnfsTer6
NM_001354905.2:c.4268_4272del	NP_001341834.1:p.Met1423AsnfsTer6
NM_001354906.2:c.3899_3903del	NP_001341835.1:p.Met1300AsnfsTer6