Canonical Allele Identifier: CA010751

Gene: APC

Linked Data

• ClinVar Variation Id: 127309
• ClinVar RCV Id: RCV000115107 ; RCV000232068 ; RCV000491906 ; RCV001255490 ; RCV003534341
• dbSNP Id: rs587779801
• MyVariant Identifiers: chr5:g.112177170_112177171delinsTA (hg19) ; chr5:g.112841473_112841474delinsTA (hg38)
• PubMed: PMID:14616385

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841473_112841474delinsTA , CM000667.2:g.112841473_112841474delinsTA	GRCh38
NC_000005.9:g.112177170_112177171delinsTA , CM000667.1:g.112177170_112177171delinsTA	GRCh37
NC_000005.8:g.112205069_112205070delinsTA	NCBI36
NG_008481.4:g.153953_153954delinsTA , LRG_130:g.153953_153954delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5933_5934delinsTA	ENSP00000473355.2:p.Pro1978Leu
ENST00000505350.2:c.*5885_*5886delinsTA	ENSP00000481752.1:n.*5885_*5886delinsTA
ENST00000507379.6:c.5825_5826delinsTA	ENSP00000423224.2:p.Pro1942Leu
ENST00000509732.6:c.5879_5880delinsTA	ENSP00000426541.2:p.Pro1960Leu
ENST00000512211.7:c.5879_5880delinsTA	ENSP00000423828.3:p.Pro1960Leu
ENST00000257430.9:c.5879_5880delinsTA MANE Select	ENSP00000257430.4:p.Pro1960Leu
ENST00000257430.8:c.5879_5880delinsTA	ENSP00000257430.4:p.Pro1960Leu
ENST00000508376.6:c.5879_5880delinsTA	ENSP00000427089.2:p.Pro1960Leu
ENST00000508624.5:c.*5201_*5202delinsTA	ENSP00000424265.1:n.*5201_*5202delinsTA
ENST00000520401.1:c.230+12501_230+12502delinsTA
NM_000038.5:c.5879_5880delinsTA	NP_000029.2:p.Pro1960Leu
NM_001127510.2:c.5879_5880delinsTA	NP_001120982.1:p.Pro1960Leu
NM_001127511.2:c.5825_5826delinsTA	NP_001120983.2:p.Pro1942Leu
NM_001354895.1:c.5879_5880delinsTA	NP_001341824.1:p.Pro1960Leu
NM_001354896.1:c.5933_5934delinsTA	NP_001341825.1:p.Pro1978Leu
NM_001354897.1:c.5909_5910delinsTA	NP_001341826.1:p.Pro1970Leu
NM_001354898.1:c.5804_5805delinsTA	NP_001341827.1:p.Pro1935Leu
NM_001354899.1:c.5795_5796delinsTA	NP_001341828.1:p.Pro1932Leu
NM_001354900.1:c.5756_5757delinsTA	NP_001341829.1:p.Pro1919Leu
NM_001354901.1:c.5702_5703delinsTA	NP_001341830.1:p.Pro1901Leu
NM_001354902.1:c.5606_5607delinsTA	NP_001341831.1:p.Pro1869Leu
NM_001354903.1:c.5576_5577delinsTA	NP_001341832.1:p.Pro1859Leu
NM_001354904.1:c.5501_5502delinsTA	NP_001341833.1:p.Pro1834Leu
NM_001354905.1:c.5399_5400delinsTA	NP_001341834.1:p.Pro1800Leu
NM_001354906.1:c.5030_5031delinsTA	NP_001341835.1:p.Pro1677Leu
NM_000038.6:c.5879_5880delinsTA MANE Select	NP_000029.2:p.Pro1960Leu
NM_001127510.3:c.5879_5880delinsTA	NP_001120982.1:p.Pro1960Leu
NM_001127511.3:c.5825_5826delinsTA	NP_001120983.2:p.Pro1942Leu
NM_001354895.2:c.5879_5880delinsTA	NP_001341824.1:p.Pro1960Leu
NM_001354896.2:c.5933_5934delinsTA	NP_001341825.1:p.Pro1978Leu
NM_001354897.2:c.5909_5910delinsTA	NP_001341826.1:p.Pro1970Leu
NM_001354898.2:c.5804_5805delinsTA	NP_001341827.1:p.Pro1935Leu
NM_001354899.2:c.5795_5796delinsTA	NP_001341828.1:p.Pro1932Leu
NM_001354900.2:c.5756_5757delinsTA	NP_001341829.1:p.Pro1919Leu
NM_001354901.2:c.5702_5703delinsTA	NP_001341830.1:p.Pro1901Leu
NM_001354902.2:c.5606_5607delinsTA	NP_001341831.1:p.Pro1869Leu
NM_001354903.2:c.5576_5577delinsTA	NP_001341832.1:p.Pro1859Leu
NM_001354904.2:c.5501_5502delinsTA	NP_001341833.1:p.Pro1834Leu
NM_001354905.2:c.5399_5400delinsTA	NP_001341834.1:p.Pro1800Leu
NM_001354906.2:c.5030_5031delinsTA	NP_001341835.1:p.Pro1677Leu