Canonical Allele Identifier: CA1139659017

Gene: APC

Linked Data

• ClinVar Variation Id: 950387
• ClinVar RCV Id: RCV003650753
• dbSNP Id: rs1765838341

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840659dup , CM000667.2:g.112840659dup	GRCh38
NC_000005.9:g.112176356dup , CM000667.1:g.112176356dup	GRCh37
NC_000005.8:g.112204255dup	NCBI36
NG_008481.4:g.153139dup , LRG_130:g.153139dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5119dup	ENSP00000473355.2:p.Thr1707AsnfsTer11
ENST00000505350.2:c.*5071dup	ENSP00000481752.1:n.*5071dup
ENST00000507379.6:c.5011dup	ENSP00000423224.2:p.Thr1671AsnfsTer11
ENST00000509732.6:c.5065dup	ENSP00000426541.2:p.Thr1689AsnfsTer11
ENST00000512211.7:c.5065dup	ENSP00000423828.3:p.Thr1689AsnfsTer11
ENST00000257430.9:c.5065dup MANE Select	ENSP00000257430.4:p.Thr1689AsnfsTer11
ENST00000257430.8:c.5065dup	ENSP00000257430.4:p.Thr1689AsnfsTer11
ENST00000508376.6:c.5065dup	ENSP00000427089.2:p.Thr1689AsnfsTer11
ENST00000508624.5:c.*4387dup	ENSP00000424265.1:n.*4387dup
ENST00000520401.1:c.230+11687dup
NM_000038.5:c.5065dup	NP_000029.2:p.Thr1689AsnfsTer11
NM_001127510.2:c.5065dup	NP_001120982.1:p.Thr1689AsnfsTer11
NM_001127511.2:c.5011dup	NP_001120983.2:p.Thr1671AsnfsTer11
NM_001354895.1:c.5065dup	NP_001341824.1:p.Thr1689AsnfsTer11
NM_001354896.1:c.5119dup	NP_001341825.1:p.Thr1707AsnfsTer11
NM_001354897.1:c.5095dup	NP_001341826.1:p.Thr1699AsnfsTer11
NM_001354898.1:c.4990dup	NP_001341827.1:p.Thr1664AsnfsTer11
NM_001354899.1:c.4981dup	NP_001341828.1:p.Thr1661AsnfsTer11
NM_001354900.1:c.4942dup	NP_001341829.1:p.Thr1648AsnfsTer11
NM_001354901.1:c.4888dup	NP_001341830.1:p.Thr1630AsnfsTer11
NM_001354902.1:c.4792dup	NP_001341831.1:p.Thr1598AsnfsTer11
NM_001354903.1:c.4762dup	NP_001341832.1:p.Thr1588AsnfsTer11
NM_001354904.1:c.4687dup	NP_001341833.1:p.Thr1563AsnfsTer11
NM_001354905.1:c.4585dup	NP_001341834.1:p.Thr1529AsnfsTer11
NM_001354906.1:c.4216dup	NP_001341835.1:p.Thr1406AsnfsTer11
NM_000038.6:c.5065dup MANE Select	NP_000029.2:p.Thr1689AsnfsTer11
NM_001127510.3:c.5065dup	NP_001120982.1:p.Thr1689AsnfsTer11
NM_001127511.3:c.5011dup	NP_001120983.2:p.Thr1671AsnfsTer11
NM_001354895.2:c.5065dup	NP_001341824.1:p.Thr1689AsnfsTer11
NM_001354896.2:c.5119dup	NP_001341825.1:p.Thr1707AsnfsTer11
NM_001354897.2:c.5095dup	NP_001341826.1:p.Thr1699AsnfsTer11
NM_001354898.2:c.4990dup	NP_001341827.1:p.Thr1664AsnfsTer11
NM_001354899.2:c.4981dup	NP_001341828.1:p.Thr1661AsnfsTer11
NM_001354900.2:c.4942dup	NP_001341829.1:p.Thr1648AsnfsTer11
NM_001354901.2:c.4888dup	NP_001341830.1:p.Thr1630AsnfsTer11
NM_001354902.2:c.4792dup	NP_001341831.1:p.Thr1598AsnfsTer11
NM_001354903.2:c.4762dup	NP_001341832.1:p.Thr1588AsnfsTer11
NM_001354904.2:c.4687dup	NP_001341833.1:p.Thr1563AsnfsTer11
NM_001354905.2:c.4585dup	NP_001341834.1:p.Thr1529AsnfsTer11
NM_001354906.2:c.4216dup	NP_001341835.1:p.Thr1406AsnfsTer11