Canonical Allele Identifier: CA10588388

Gene: APC

Linked Data

• ClinVar Variation Id: 265637
• ClinVar RCV Id: RCV000255086 ; RCV001026088 ; RCV003337269
• dbSNP Id: rs886039687
• gnomAD v4: 5-112842730-CCAAA-C
• MyVariant Identifiers: chr5:g.112178434_112178437del (hg19) ; chr5:g.112842737_112842740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842737_112842740del , CM000667.2:g.112842737_112842740del	GRCh38
NC_000005.9:g.112178434_112178437del , CM000667.1:g.112178434_112178437del	GRCh37
NC_000005.8:g.112206333_112206336del	NCBI36
NG_008481.4:g.155217_155220del , LRG_130:g.155217_155220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7197_7200del	ENSP00000473355.2:p.Thr2400ValfsTer19
ENST00000505350.2:c.*7149_*7152del	ENSP00000481752.1:n.*7149_*7152del
ENST00000507379.6:c.7089_7092del	ENSP00000423224.2:p.Thr2364ValfsTer19
ENST00000509732.6:c.7143_7146del	ENSP00000426541.2:p.Thr2382ValfsTer19
ENST00000512211.7:c.7143_7146del	ENSP00000423828.3:p.Thr2382ValfsTer19
ENST00000257430.9:c.7143_7146del MANE Select	ENSP00000257430.4:p.Thr2382ValfsTer19
ENST00000257430.8:c.7143_7146del	ENSP00000257430.4:p.Thr2382ValfsTer19
ENST00000508376.6:c.7143_7146del	ENSP00000427089.2:p.Thr2382ValfsTer19
ENST00000508624.5:c.*6465_*6468del	ENSP00000424265.1:n.*6465_*6468del
ENST00000520401.1:c.230+13765_230+13768del
NM_000038.5:c.7143_7146del	NP_000029.2:p.Thr2382ValfsTer19
NM_001127510.2:c.7143_7146del	NP_001120982.1:p.Thr2382ValfsTer19
NM_001127511.2:c.7089_7092del	NP_001120983.2:p.Thr2364ValfsTer19
NM_001354895.1:c.7143_7146del	NP_001341824.1:p.Thr2382ValfsTer19
NM_001354896.1:c.7197_7200del	NP_001341825.1:p.Thr2400ValfsTer19
NM_001354897.1:c.7173_7176del	NP_001341826.1:p.Thr2392ValfsTer19
NM_001354898.1:c.7068_7071del	NP_001341827.1:p.Thr2357ValfsTer19
NM_001354899.1:c.7059_7062del	NP_001341828.1:p.Thr2354ValfsTer19
NM_001354900.1:c.7020_7023del	NP_001341829.1:p.Thr2341ValfsTer19
NM_001354901.1:c.6966_6969del	NP_001341830.1:p.Thr2323ValfsTer19
NM_001354902.1:c.6870_6873del	NP_001341831.1:p.Thr2291ValfsTer19
NM_001354903.1:c.6840_6843del	NP_001341832.1:p.Thr2281ValfsTer19
NM_001354904.1:c.6765_6768del	NP_001341833.1:p.Thr2256ValfsTer19
NM_001354905.1:c.6663_6666del	NP_001341834.1:p.Thr2222ValfsTer19
NM_001354906.1:c.6294_6297del	NP_001341835.1:p.Thr2099ValfsTer19
NM_000038.6:c.7143_7146del MANE Select	NP_000029.2:p.Thr2382ValfsTer19
NM_001127510.3:c.7143_7146del	NP_001120982.1:p.Thr2382ValfsTer19
NM_001127511.3:c.7089_7092del	NP_001120983.2:p.Thr2364ValfsTer19
NM_001354895.2:c.7143_7146del	NP_001341824.1:p.Thr2382ValfsTer19
NM_001354896.2:c.7197_7200del	NP_001341825.1:p.Thr2400ValfsTer19
NM_001354897.2:c.7173_7176del	NP_001341826.1:p.Thr2392ValfsTer19
NM_001354898.2:c.7068_7071del	NP_001341827.1:p.Thr2357ValfsTer19
NM_001354899.2:c.7059_7062del	NP_001341828.1:p.Thr2354ValfsTer19
NM_001354900.2:c.7020_7023del	NP_001341829.1:p.Thr2341ValfsTer19
NM_001354901.2:c.6966_6969del	NP_001341830.1:p.Thr2323ValfsTer19
NM_001354902.2:c.6870_6873del	NP_001341831.1:p.Thr2291ValfsTer19
NM_001354903.2:c.6840_6843del	NP_001341832.1:p.Thr2281ValfsTer19
NM_001354904.2:c.6765_6768del	NP_001341833.1:p.Thr2256ValfsTer19
NM_001354905.2:c.6663_6666del	NP_001341834.1:p.Thr2222ValfsTer19
NM_001354906.2:c.6294_6297del	NP_001341835.1:p.Thr2099ValfsTer19