Canonical Allele Identifier: CA658822393

Gene: APC

Linked Data

• ClinVar Variation Id: 545895
• ClinVar RCV Id: RCV000657499 ; RCV003336126
• dbSNP Id: rs1554082100
• MyVariant Identifiers: chr5:g.112164578del (hg19) ; chr5:g.112828881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828881del , CM000667.2:g.112828881del	GRCh38
NC_000005.9:g.112164578del , CM000667.1:g.112164578del	GRCh37
NC_000005.8:g.112192477del	NCBI36
NG_008481.4:g.141361del , LRG_130:g.141361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6070del	ENSP00000484935.2:n.1409-6070del
ENST00000504915.3:c.1706del	ENSP00000473355.2:p.Leu569CysfsTer7
ENST00000505084.2:n.1708del
ENST00000505350.2:c.*1658del	ENSP00000481752.1:n.*1658del
ENST00000507379.6:c.1598del	ENSP00000423224.2:p.Leu533CysfsTer7
ENST00000509732.6:c.1652del	ENSP00000426541.2:p.Leu551CysfsTer7
ENST00000512211.7:c.1652del	ENSP00000423828.3:p.Leu551CysfsTer7
ENST00000257430.9:c.1652del MANE Select	ENSP00000257430.4:p.Leu551CysfsTer7
ENST00000257430.8:c.1652del	ENSP00000257430.4:p.Leu551CysfsTer7
ENST00000502371.2:c.97-6070del
ENST00000504915.2:c.341del	ENSP00000473355.1:p.Leu114CysfsTer7
ENST00000505084.1:n.139del
ENST00000507379.5:c.1598del	ENSP00000423224.1:p.Leu533CysfsTer7
ENST00000508376.6:c.1652del	ENSP00000427089.2:p.Leu551CysfsTer7
ENST00000508624.5:c.*974del	ENSP00000424265.1:n.*974del
ENST00000512211.6:c.1652del	ENSP00000423828.2:p.Leu551CysfsTer7
ENST00000520401.1:c.139del
NM_000038.5:c.1652del	NP_000029.2:p.Leu551CysfsTer7
NM_001127510.2:c.1652del	NP_001120982.1:p.Leu551CysfsTer7
NM_001127511.2:c.1598del	NP_001120983.2:p.Leu533CysfsTer7
NM_001354895.1:c.1652del	NP_001341824.1:p.Leu551CysfsTer7
NM_001354896.1:c.1706del	NP_001341825.1:p.Leu569CysfsTer7
NM_001354897.1:c.1682del	NP_001341826.1:p.Leu561CysfsTer7
NM_001354898.1:c.1577del	NP_001341827.1:p.Leu526CysfsTer7
NM_001354899.1:c.1568del	NP_001341828.1:p.Leu523CysfsTer7
NM_001354900.1:c.1529del	NP_001341829.1:p.Leu510CysfsTer7
NM_001354901.1:c.1475del	NP_001341830.1:p.Leu492CysfsTer7
NM_001354902.1:c.1379del	NP_001341831.1:p.Leu460CysfsTer7
NM_001354903.1:c.1349del	NP_001341832.1:p.Leu450CysfsTer7
NM_001354904.1:c.1274del	NP_001341833.1:p.Leu425CysfsTer7
NM_001354905.1:c.1172del	NP_001341834.1:p.Leu391CysfsTer7
NM_001354906.1:c.803del	NP_001341835.1:p.Leu268CysfsTer7
NM_000038.6:c.1652del MANE Select	NP_000029.2:p.Leu551CysfsTer7
NM_001127510.3:c.1652del	NP_001120982.1:p.Leu551CysfsTer7
NM_001127511.3:c.1598del	NP_001120983.2:p.Leu533CysfsTer7
NM_001354895.2:c.1652del	NP_001341824.1:p.Leu551CysfsTer7
NM_001354896.2:c.1706del	NP_001341825.1:p.Leu569CysfsTer7
NM_001354897.2:c.1682del	NP_001341826.1:p.Leu561CysfsTer7
NM_001354898.2:c.1577del	NP_001341827.1:p.Leu526CysfsTer7
NM_001354899.2:c.1568del	NP_001341828.1:p.Leu523CysfsTer7
NM_001354900.2:c.1529del	NP_001341829.1:p.Leu510CysfsTer7
NM_001354901.2:c.1475del	NP_001341830.1:p.Leu492CysfsTer7
NM_001354902.2:c.1379del	NP_001341831.1:p.Leu460CysfsTer7
NM_001354903.2:c.1349del	NP_001341832.1:p.Leu450CysfsTer7
NM_001354904.2:c.1274del	NP_001341833.1:p.Leu425CysfsTer7
NM_001354905.2:c.1172del	NP_001341834.1:p.Leu391CysfsTer7
NM_001354906.2:c.803del	NP_001341835.1:p.Leu268CysfsTer7