Canonical Allele Identifier: CA2697546406

Gene: APC

Linked Data

• ClinVar Variation Id: 2683909
• ClinVar RCV Id: RCV003484510

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843252_112843255dup , CM000667.2:g.112843252_112843255dup	GRCh38
NC_000005.9:g.112178949_112178952dup , CM000667.1:g.112178949_112178952dup	GRCh37
NC_000005.8:g.112206848_112206851dup	NCBI36
NG_008481.4:g.155732_155735dup , LRG_130:g.155732_155735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7712_7715dup	ENSP00000473355.2:p.His2572GlnfsTer30
ENST00000505350.2:c.*7664_*7667dup	ENSP00000481752.1:n.*7664_*7667dup
ENST00000507379.6:c.7604_7607dup	ENSP00000423224.2:p.His2536GlnfsTer30
ENST00000509732.6:c.7658_7661dup	ENSP00000426541.2:p.His2554GlnfsTer30
ENST00000512211.7:c.7658_7661dup	ENSP00000423828.3:p.His2554GlnfsTer30
ENST00000257430.9:c.7658_7661dup MANE Select	ENSP00000257430.4:p.His2554GlnfsTer30
ENST00000257430.8:c.7658_7661dup	ENSP00000257430.4:p.His2554GlnfsTer30
ENST00000508376.6:c.7658_7661dup	ENSP00000427089.2:p.His2554GlnfsTer30
ENST00000520401.1:c.231-13397_231-13394dup
NM_000038.5:c.7658_7661dup	NP_000029.2:p.His2554GlnfsTer30
NM_001127510.2:c.7658_7661dup	NP_001120982.1:p.His2554GlnfsTer30
NM_001127511.2:c.7604_7607dup	NP_001120983.2:p.His2536GlnfsTer30
NM_001354895.1:c.7658_7661dup	NP_001341824.1:p.His2554GlnfsTer30
NM_001354896.1:c.7712_7715dup	NP_001341825.1:p.His2572GlnfsTer30
NM_001354897.1:c.7688_7691dup	NP_001341826.1:p.His2564GlnfsTer30
NM_001354898.1:c.7583_7586dup	NP_001341827.1:p.His2529GlnfsTer30
NM_001354899.1:c.7574_7577dup	NP_001341828.1:p.His2526GlnfsTer30
NM_001354900.1:c.7535_7538dup	NP_001341829.1:p.His2513GlnfsTer30
NM_001354901.1:c.7481_7484dup	NP_001341830.1:p.His2495GlnfsTer30
NM_001354902.1:c.7385_7388dup	NP_001341831.1:p.His2463GlnfsTer30
NM_001354903.1:c.7355_7358dup	NP_001341832.1:p.His2453GlnfsTer30
NM_001354904.1:c.7280_7283dup	NP_001341833.1:p.His2428GlnfsTer30
NM_001354905.1:c.7178_7181dup	NP_001341834.1:p.His2394GlnfsTer30
NM_001354906.1:c.6809_6812dup	NP_001341835.1:p.His2271GlnfsTer30
NM_000038.6:c.7658_7661dup MANE Select	NP_000029.2:p.His2554GlnfsTer30
NM_001127510.3:c.7658_7661dup	NP_001120982.1:p.His2554GlnfsTer30
NM_001127511.3:c.7604_7607dup	NP_001120983.2:p.His2536GlnfsTer30
NM_001354895.2:c.7658_7661dup	NP_001341824.1:p.His2554GlnfsTer30
NM_001354896.2:c.7712_7715dup	NP_001341825.1:p.His2572GlnfsTer30
NM_001354897.2:c.7688_7691dup	NP_001341826.1:p.His2564GlnfsTer30
NM_001354898.2:c.7583_7586dup	NP_001341827.1:p.His2529GlnfsTer30
NM_001354899.2:c.7574_7577dup	NP_001341828.1:p.His2526GlnfsTer30
NM_001354900.2:c.7535_7538dup	NP_001341829.1:p.His2513GlnfsTer30
NM_001354901.2:c.7481_7484dup	NP_001341830.1:p.His2495GlnfsTer30
NM_001354902.2:c.7385_7388dup	NP_001341831.1:p.His2463GlnfsTer30
NM_001354903.2:c.7355_7358dup	NP_001341832.1:p.His2453GlnfsTer30
NM_001354904.2:c.7280_7283dup	NP_001341833.1:p.His2428GlnfsTer30
NM_001354905.2:c.7178_7181dup	NP_001341834.1:p.His2394GlnfsTer30
NM_001354906.2:c.6809_6812dup	NP_001341835.1:p.His2271GlnfsTer30