Canonical Allele Identifier: CA658683418

Gene: APC

Linked Data

• ClinVar Variation Id: 490233
• ClinVar RCV Id: RCV000582851 ; RCV003537251
• dbSNP Id: rs1554083267
• gnomAD v4: 5-112835173-TAG-T
• MyVariant Identifiers: chr5:g.112170873_112170874del (hg19) ; chr5:g.112835176_112835177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835176_112835177del , CM000667.2:g.112835176_112835177del	GRCh38
NC_000005.9:g.112170873_112170874del , CM000667.1:g.112170873_112170874del	GRCh37
NC_000005.8:g.112198772_112198773del	NCBI36
NG_008481.4:g.147656_147657del , LRG_130:g.147656_147657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1623+11_1623+12del	ENSP00000484935.2:n.1623+11_1623+12del
ENST00000504915.3:c.2012+11_2012+12del	ENSP00000473355.2:n.2012+11_2012+12del
ENST00000505350.2:c.*1964+11_*1964+12del	ENSP00000481752.1:n.*1964+11_*1964+12del
ENST00000507379.6:c.1904+11_1904+12del	ENSP00000423224.2:n.1904+11_1904+12del
ENST00000509732.6:c.1958+11_1958+12del	ENSP00000426541.2:n.1958+11_1958+12del
ENST00000512211.7:c.1958+11_1958+12del	ENSP00000423828.3:n.1958+11_1958+12del
ENST00000257430.9:c.1958+11_1958+12del MANE Select	ENSP00000257430.4:n.1958+11_1958+12del
ENST00000257430.8:c.1958+11_1958+12del	ENSP00000257430.4:n.1958+11_1958+12del
ENST00000502371.2:c.311+11_311+12del
ENST00000504915.2:c.647+11_647+12del	ENSP00000473355.1:n.647+11_647+12del
ENST00000507379.5:c.1904+11_1904+12del	ENSP00000423224.1:n.1904+11_1904+12del
ENST00000508376.6:c.1958+11_1958+12del	ENSP00000427089.2:n.1958+11_1958+12del
ENST00000508624.5:c.*1280+11_*1280+12del	ENSP00000424265.1:n.*1280+11_*1280+12del
ENST00000512211.6:c.1958+11_1958+12del	ENSP00000423828.2:n.1958+11_1958+12del
ENST00000520401.1:c.230+6204_230+6205del
NM_000038.5:c.1958+11_1958+12del	NP_000029.2:n.1958+11_1958+12del
NM_001127510.2:c.1958+11_1958+12del	NP_001120982.1:n.1958+11_1958+12del
NM_001127511.2:c.1904+11_1904+12del	NP_001120983.2:n.1904+11_1904+12del
NM_001354895.1:c.1958+11_1958+12del	NP_001341824.1:n.1958+11_1958+12del
NM_001354896.1:c.2012+11_2012+12del	NP_001341825.1:n.2012+11_2012+12del
NM_001354897.1:c.1988+11_1988+12del	NP_001341826.1:n.1988+11_1988+12del
NM_001354898.1:c.1883+11_1883+12del	NP_001341827.1:n.1883+11_1883+12del
NM_001354899.1:c.1874+11_1874+12del	NP_001341828.1:n.1874+11_1874+12del
NM_001354900.1:c.1835+11_1835+12del	NP_001341829.1:n.1835+11_1835+12del
NM_001354901.1:c.1781+11_1781+12del	NP_001341830.1:n.1781+11_1781+12del
NM_001354902.1:c.1685+11_1685+12del	NP_001341831.1:n.1685+11_1685+12del
NM_001354903.1:c.1655+11_1655+12del	NP_001341832.1:n.1655+11_1655+12del
NM_001354904.1:c.1580+11_1580+12del	NP_001341833.1:n.1580+11_1580+12del
NM_001354905.1:c.1478+11_1478+12del	NP_001341834.1:n.1478+11_1478+12del
NM_001354906.1:c.1109+11_1109+12del	NP_001341835.1:n.1109+11_1109+12del
NM_000038.6:c.1958+11_1958+12del MANE Select	NP_000029.2:n.1958+11_1958+12del
NM_001127510.3:c.1958+11_1958+12del	NP_001120982.1:n.1958+11_1958+12del
NM_001127511.3:c.1904+11_1904+12del	NP_001120983.2:n.1904+11_1904+12del
NM_001354895.2:c.1958+11_1958+12del	NP_001341824.1:n.1958+11_1958+12del
NM_001354896.2:c.2012+11_2012+12del	NP_001341825.1:n.2012+11_2012+12del
NM_001354897.2:c.1988+11_1988+12del	NP_001341826.1:n.1988+11_1988+12del
NM_001354898.2:c.1883+11_1883+12del	NP_001341827.1:n.1883+11_1883+12del
NM_001354899.2:c.1874+11_1874+12del	NP_001341828.1:n.1874+11_1874+12del
NM_001354900.2:c.1835+11_1835+12del	NP_001341829.1:n.1835+11_1835+12del
NM_001354901.2:c.1781+11_1781+12del	NP_001341830.1:n.1781+11_1781+12del
NM_001354902.2:c.1685+11_1685+12del	NP_001341831.1:n.1685+11_1685+12del
NM_001354903.2:c.1655+11_1655+12del	NP_001341832.1:n.1655+11_1655+12del
NM_001354904.2:c.1580+11_1580+12del	NP_001341833.1:n.1580+11_1580+12del
NM_001354905.2:c.1478+11_1478+12del	NP_001341834.1:n.1478+11_1478+12del
NM_001354906.2:c.1109+11_1109+12del	NP_001341835.1:n.1109+11_1109+12del