Canonical Allele Identifier: CA2573138695

Gene: APC

Linked Data

• ClinVar Variation Id: 1394052
• ClinVar RCV Id: RCV003772709
• dbSNP Id: rs2149897853

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839329_112839330insTGCCTCAAAAG , CM000667.2:g.112839329_112839330insTGCCTCAAAAG	GRCh38
NC_000005.9:g.112175026_112175027insTGCCTCAAAAG , CM000667.1:g.112175026_112175027insTGCCTCAAAAG	GRCh37
NC_000005.8:g.112202925_112202926insTGCCTCAAAAG	NCBI36
NG_008481.4:g.151809_151810insTGCCTCAAAAG , LRG_130:g.151809_151810insTGCCTCAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3400_3401insTGCCTCAAAAG	ENSP00000484935.2:n.3400_3401insTGCCTCAAAAG
ENST00000504915.3:c.3789_3790insTGCCTCAAAAG	ENSP00000473355.2:p.Ala1264CysfsTer23
ENST00000505350.2:c.*3741_*3742insTGCCTCAAAAG	ENSP00000481752.1:n.*3741_*3742insTGCCTCAAAAG
ENST00000507379.6:c.3681_3682insTGCCTCAAAAG	ENSP00000423224.2:p.Ala1228CysfsTer23
ENST00000509732.6:c.3735_3736insTGCCTCAAAAG	ENSP00000426541.2:p.Ala1246CysfsTer23
ENST00000512211.7:c.3735_3736insTGCCTCAAAAG	ENSP00000423828.3:p.Ala1246CysfsTer23
ENST00000257430.9:c.3735_3736insTGCCTCAAAAG MANE Select	ENSP00000257430.4:p.Ala1246CysfsTer23
ENST00000257430.8:c.3735_3736insTGCCTCAAAAG	ENSP00000257430.4:p.Ala1246CysfsTer23
ENST00000502371.2:c.2088_2089insTGCCTCAAAAG
ENST00000508376.6:c.3735_3736insTGCCTCAAAAG	ENSP00000427089.2:p.Ala1246CysfsTer23
ENST00000508624.5:c.*3057_*3058insTGCCTCAAAAG	ENSP00000424265.1:n.*3057_*3058insTGCCTCAAAAG
ENST00000512211.6:c.3735_3736insTGCCTCAAAAG	ENSP00000423828.2:p.Ala1246CysfsTer23
ENST00000520401.1:c.230+10357_230+10358insTGCCTCAAAAG
NM_000038.5:c.3735_3736insTGCCTCAAAAG	NP_000029.2:p.Ala1246CysfsTer23
NM_001127510.2:c.3735_3736insTGCCTCAAAAG	NP_001120982.1:p.Ala1246CysfsTer23
NM_001127511.2:c.3681_3682insTGCCTCAAAAG	NP_001120983.2:p.Ala1228CysfsTer23
NM_001354895.1:c.3735_3736insTGCCTCAAAAG	NP_001341824.1:p.Ala1246CysfsTer23
NM_001354896.1:c.3789_3790insTGCCTCAAAAG	NP_001341825.1:p.Ala1264CysfsTer23
NM_001354897.1:c.3765_3766insTGCCTCAAAAG	NP_001341826.1:p.Ala1256CysfsTer23
NM_001354898.1:c.3660_3661insTGCCTCAAAAG	NP_001341827.1:p.Ala1221CysfsTer23
NM_001354899.1:c.3651_3652insTGCCTCAAAAG	NP_001341828.1:p.Ala1218CysfsTer23
NM_001354900.1:c.3612_3613insTGCCTCAAAAG	NP_001341829.1:p.Ala1205CysfsTer23
NM_001354901.1:c.3558_3559insTGCCTCAAAAG	NP_001341830.1:p.Ala1187CysfsTer23
NM_001354902.1:c.3462_3463insTGCCTCAAAAG	NP_001341831.1:p.Ala1155CysfsTer23
NM_001354903.1:c.3432_3433insTGCCTCAAAAG	NP_001341832.1:p.Ala1145CysfsTer23
NM_001354904.1:c.3357_3358insTGCCTCAAAAG	NP_001341833.1:p.Ala1120CysfsTer23
NM_001354905.1:c.3255_3256insTGCCTCAAAAG	NP_001341834.1:p.Ala1086CysfsTer23
NM_001354906.1:c.2886_2887insTGCCTCAAAAG	NP_001341835.1:p.Ala963CysfsTer23
NM_000038.6:c.3735_3736insTGCCTCAAAAG MANE Select	NP_000029.2:p.Ala1246CysfsTer23
NM_001127510.3:c.3735_3736insTGCCTCAAAAG	NP_001120982.1:p.Ala1246CysfsTer23
NM_001127511.3:c.3681_3682insTGCCTCAAAAG	NP_001120983.2:p.Ala1228CysfsTer23
NM_001354895.2:c.3735_3736insTGCCTCAAAAG	NP_001341824.1:p.Ala1246CysfsTer23
NM_001354896.2:c.3789_3790insTGCCTCAAAAG	NP_001341825.1:p.Ala1264CysfsTer23
NM_001354897.2:c.3765_3766insTGCCTCAAAAG	NP_001341826.1:p.Ala1256CysfsTer23
NM_001354898.2:c.3660_3661insTGCCTCAAAAG	NP_001341827.1:p.Ala1221CysfsTer23
NM_001354899.2:c.3651_3652insTGCCTCAAAAG	NP_001341828.1:p.Ala1218CysfsTer23
NM_001354900.2:c.3612_3613insTGCCTCAAAAG	NP_001341829.1:p.Ala1205CysfsTer23
NM_001354901.2:c.3558_3559insTGCCTCAAAAG	NP_001341830.1:p.Ala1187CysfsTer23
NM_001354902.2:c.3462_3463insTGCCTCAAAAG	NP_001341831.1:p.Ala1155CysfsTer23
NM_001354903.2:c.3432_3433insTGCCTCAAAAG	NP_001341832.1:p.Ala1145CysfsTer23
NM_001354904.2:c.3357_3358insTGCCTCAAAAG	NP_001341833.1:p.Ala1120CysfsTer23
NM_001354905.2:c.3255_3256insTGCCTCAAAAG	NP_001341834.1:p.Ala1086CysfsTer23
NM_001354906.2:c.2886_2887insTGCCTCAAAAG	NP_001341835.1:p.Ala963CysfsTer23