Canonical Allele Identifier: CA006264

Gene: APC

Linked Data

• ClinVar Variation Id: 809
• ClinVar RCV Id: RCV000000847
• dbSNP Id: rs387906233
• MyVariant Identifiers: chr5:g.112170789_112170790insA (hg19) ; chr5:g.112835092_112835093insA (hg38)
• PubMed: PMID:1324223 ; PMID:8990002

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835092_112835093insA , CM000667.2:g.112835092_112835093insA	GRCh38
NC_000005.9:g.112170789_112170790insA , CM000667.1:g.112170789_112170790insA	GRCh37
NC_000005.8:g.112198688_112198689insA	NCBI36
NG_008481.4:g.147572_147573insA , LRG_130:g.147572_147573insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1550_1551insA	ENSP00000484935.2:n.1550_1551insA
ENST00000504915.3:c.1939_1940insA	ENSP00000473355.2:p.Leu647TyrfsTer5
ENST00000505350.2:c.*1891_*1892insA	ENSP00000481752.1:n.*1891_*1892insA
ENST00000507379.6:c.1831_1832insA	ENSP00000423224.2:p.Leu611TyrfsTer5
ENST00000509732.6:c.1885_1886insA	ENSP00000426541.2:p.Leu629TyrfsTer5
ENST00000512211.7:c.1885_1886insA	ENSP00000423828.3:p.Leu629TyrfsTer5
ENST00000257430.9:c.1885_1886insA MANE Select	ENSP00000257430.4:p.Leu629TyrfsTer5
ENST00000257430.8:c.1885_1886insA	ENSP00000257430.4:p.Leu629TyrfsTer5
ENST00000502371.2:c.238_239insA
ENST00000504915.2:c.574_575insA	ENSP00000473355.1:p.Leu192TyrfsTer5
ENST00000507379.5:c.1831_1832insA	ENSP00000423224.1:p.Leu611TyrfsTer5
ENST00000508376.6:c.1885_1886insA	ENSP00000427089.2:p.Leu629TyrfsTer5
ENST00000508624.5:c.*1207_*1208insA	ENSP00000424265.1:n.*1207_*1208insA
ENST00000512211.6:c.1885_1886insA	ENSP00000423828.2:p.Leu629TyrfsTer5
ENST00000520401.1:c.230+6120_230+6121insA
NM_000038.5:c.1885_1886insA	NP_000029.2:p.Leu629TyrfsTer5
NM_001127510.2:c.1885_1886insA	NP_001120982.1:p.Leu629TyrfsTer5
NM_001127511.2:c.1831_1832insA	NP_001120983.2:p.Leu611TyrfsTer5
NM_001354895.1:c.1885_1886insA	NP_001341824.1:p.Leu629TyrfsTer5
NM_001354896.1:c.1939_1940insA	NP_001341825.1:p.Leu647TyrfsTer5
NM_001354897.1:c.1915_1916insA	NP_001341826.1:p.Leu639TyrfsTer5
NM_001354898.1:c.1810_1811insA	NP_001341827.1:p.Leu604TyrfsTer5
NM_001354899.1:c.1801_1802insA	NP_001341828.1:p.Leu601TyrfsTer5
NM_001354900.1:c.1762_1763insA	NP_001341829.1:p.Leu588TyrfsTer5
NM_001354901.1:c.1708_1709insA	NP_001341830.1:p.Leu570TyrfsTer5
NM_001354902.1:c.1612_1613insA	NP_001341831.1:p.Leu538TyrfsTer5
NM_001354903.1:c.1582_1583insA	NP_001341832.1:p.Leu528TyrfsTer5
NM_001354904.1:c.1507_1508insA	NP_001341833.1:p.Leu503TyrfsTer5
NM_001354905.1:c.1405_1406insA	NP_001341834.1:p.Leu469TyrfsTer5
NM_001354906.1:c.1036_1037insA	NP_001341835.1:p.Leu346TyrfsTer5
NM_000038.6:c.1885_1886insA MANE Select	NP_000029.2:p.Leu629TyrfsTer5
NM_001127510.3:c.1885_1886insA	NP_001120982.1:p.Leu629TyrfsTer5
NM_001127511.3:c.1831_1832insA	NP_001120983.2:p.Leu611TyrfsTer5
NM_001354895.2:c.1885_1886insA	NP_001341824.1:p.Leu629TyrfsTer5
NM_001354896.2:c.1939_1940insA	NP_001341825.1:p.Leu647TyrfsTer5
NM_001354897.2:c.1915_1916insA	NP_001341826.1:p.Leu639TyrfsTer5
NM_001354898.2:c.1810_1811insA	NP_001341827.1:p.Leu604TyrfsTer5
NM_001354899.2:c.1801_1802insA	NP_001341828.1:p.Leu601TyrfsTer5
NM_001354900.2:c.1762_1763insA	NP_001341829.1:p.Leu588TyrfsTer5
NM_001354901.2:c.1708_1709insA	NP_001341830.1:p.Leu570TyrfsTer5
NM_001354902.2:c.1612_1613insA	NP_001341831.1:p.Leu538TyrfsTer5
NM_001354903.2:c.1582_1583insA	NP_001341832.1:p.Leu528TyrfsTer5
NM_001354904.2:c.1507_1508insA	NP_001341833.1:p.Leu503TyrfsTer5
NM_001354905.2:c.1405_1406insA	NP_001341834.1:p.Leu469TyrfsTer5
NM_001354906.2:c.1036_1037insA	NP_001341835.1:p.Leu346TyrfsTer5