Canonical Allele Identifier: CA2580072589

Gene: APC

Linked Data

• ClinVar Variation Id: 1769730
• ClinVar RCV Id: RCV002385513 ; RCV003744034
• gnomAD v4: 5-112821894-AGTGCCAGCTCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821897_112821908del , CM000667.2:g.112821897_112821908del	GRCh38
NC_000005.9:g.112157594_112157605del , CM000667.1:g.112157594_112157605del	GRCh37
NC_000005.8:g.112185493_112185504del	NCBI36
NG_008481.4:g.134377_134388del , LRG_130:g.134377_134388del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1314_1325del
ENST00000504915.3:c.1314_1325del
ENST00000505084.2:n.1370_1381del
ENST00000505350.2:c.*1320_*1331del
ENST00000507379.6:c.1260_1271del
ENST00000509732.6:c.1314_1325del
ENST00000512211.7:c.1314_1325del
ENST00000257430.9:c.1314_1325del
ENST00000257430.8:c.1314_1325del
ENST00000507379.5:c.1260_1271del
ENST00000508376.6:c.1314_1325del
ENST00000508624.5:c.*636_*647del
ENST00000512211.6:c.1314_1325del
NM_000038.5:c.1314_1325del
NM_001127510.2:c.1314_1325del
NM_001127511.2:c.1260_1271del
NM_001354895.1:c.1314_1325del
NM_001354896.1:c.1314_1325del
NM_001354897.1:c.1344_1355del
NM_001354898.1:c.1239_1250del
NM_001354899.1:c.1230_1241del
NM_001354900.1:c.1137_1148del
NM_001354901.1:c.1137_1148del
NM_001354902.1:c.1041_1052del
NM_001354903.1:c.1011_1022del
NM_001354904.1:c.936_947del
NM_001354905.1:c.834_845del
NM_001354906.1:c.465_476del
NM_000038.6:c.1314_1325del
NM_001127510.3:c.1314_1325del
NM_001127511.3:c.1260_1271del
NM_001354895.2:c.1314_1325del
NM_001354896.2:c.1314_1325del
NM_001354897.2:c.1344_1355del
NM_001354898.2:c.1239_1250del
NM_001354899.2:c.1230_1241del
NM_001354900.2:c.1137_1148del
NM_001354901.2:c.1137_1148del
NM_001354902.2:c.1041_1052del
NM_001354903.2:c.1011_1022del
NM_001354904.2:c.936_947del
NM_001354905.2:c.834_845del
NM_001354906.2:c.465_476del