Canonical Allele Identifier: CA008769

Gene: APC

Linked Data

• ClinVar Variation Id: 816
• ClinVar RCV Id: RCV000000856 ; RCV000000857 ; RCV000000858 ; RCV000128941 ; RCV000202014 ; RCV000626570 ; RCV000677779 ; RCV000677780 ; RCV000844611 ; RCV001199306 ; RCV003338376 ; RCV003534303 ; RCV003996072
• dbSNP Id: rs121913224
• ExAC: 5:112175211 TAAAAG / T
• gnomAD v2: 5-112175211-TAAAAG-T
• gnomAD v4: 5-112839514-TAAAAG-T
• COSMIC: COSM13113 ; COSM18701 ; COSM18764 ; COSM19145 ; COSM19263
• MyVariant Identifiers: chr5:g.112175218_112175222del (hg19) ; chr5:g.112175212_112175216del (hg19) ; chr5:g.112175218_112175222delAAAGA (hg19) ; chr5:g.112839521_112839525del (hg38) ; chr5:g.112839515_112839519del (hg38)
• PubMed: PMID:1316610 ; PMID:7906810 ; PMID:8162022 ; PMID:8162051 ; PMID:8187091 ; PMID:8281160 ; PMID:8395941 ; PMID:8929955 ; PMID:9890479 ; PMID:10213492 ; PMID:10768871 ; PMID:11247896 ; PMID:12172928 ; PMID:14523376 ; PMID:14729851 ; PMID:16088911 ; PMID:17026565 ; PMID:17963004 ; PMID:19029688 ; PMID:20223039 ; PMID:20301519 ; PMID:23159591 ; PMID:23561487 ; PMID:23891399 ; PMID:24664542 ; PMID:25317407 ; PMID:25980754 ; PMID:29438965

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839521_112839525del , CM000667.2:g.112839521_112839525del	GRCh38
NC_000005.9:g.112175218_112175222del , CM000667.1:g.112175218_112175222del	GRCh37
NC_000005.8:g.112203117_112203121del	NCBI36
NG_008481.4:g.152001_152005del , LRG_130:g.152001_152005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3592_3596del	ENSP00000484935.2:n.3592_3596del
ENST00000504915.3:c.3981_3985del	ENSP00000473355.2:p.Glu1327AspfsTer4
ENST00000505350.2:c.*3933_*3937del	ENSP00000481752.1:n.*3933_*3937del
ENST00000507379.6:c.3873_3877del	ENSP00000423224.2:p.Glu1291AspfsTer4
ENST00000509732.6:c.3927_3931del	ENSP00000426541.2:p.Glu1309AspfsTer4
ENST00000512211.7:c.3927_3931del	ENSP00000423828.3:p.Glu1309AspfsTer4
ENST00000257430.9:c.3927_3931del MANE Select	ENSP00000257430.4:p.Glu1309AspfsTer4
ENST00000257430.8:c.3927_3931del	ENSP00000257430.4:p.Glu1309AspfsTer4
ENST00000502371.2:c.2280_2284del
ENST00000508376.6:c.3927_3931del	ENSP00000427089.2:p.Glu1309AspfsTer4
ENST00000508624.5:c.*3249_*3253del	ENSP00000424265.1:n.*3249_*3253del
ENST00000520401.1:c.230+10549_230+10553del
NM_000038.5:c.3927_3931del	NP_000029.2:p.Glu1309AspfsTer4
NM_001127510.2:c.3927_3931del	NP_001120982.1:p.Glu1309AspfsTer4
NM_001127511.2:c.3873_3877del	NP_001120983.2:p.Glu1291AspfsTer4
NM_001354895.1:c.3927_3931del	NP_001341824.1:p.Glu1309AspfsTer4
NM_001354896.1:c.3981_3985del	NP_001341825.1:p.Glu1327AspfsTer4
NM_001354897.1:c.3957_3961del	NP_001341826.1:p.Glu1319AspfsTer4
NM_001354898.1:c.3852_3856del	NP_001341827.1:p.Glu1284AspfsTer4
NM_001354899.1:c.3843_3847del	NP_001341828.1:p.Glu1281AspfsTer4
NM_001354900.1:c.3804_3808del	NP_001341829.1:p.Glu1268AspfsTer4
NM_001354901.1:c.3750_3754del	NP_001341830.1:p.Glu1250AspfsTer4
NM_001354902.1:c.3654_3658del	NP_001341831.1:p.Glu1218AspfsTer4
NM_001354903.1:c.3624_3628del	NP_001341832.1:p.Glu1208AspfsTer4
NM_001354904.1:c.3549_3553del	NP_001341833.1:p.Glu1183AspfsTer4
NM_001354905.1:c.3447_3451del	NP_001341834.1:p.Glu1149AspfsTer4
NM_001354906.1:c.3078_3082del	NP_001341835.1:p.Glu1026AspfsTer4
NM_000038.6:c.3927_3931del MANE Select	NP_000029.2:p.Glu1309AspfsTer4
NM_001127510.3:c.3927_3931del	NP_001120982.1:p.Glu1309AspfsTer4
NM_001127511.3:c.3873_3877del	NP_001120983.2:p.Glu1291AspfsTer4
NM_001354895.2:c.3927_3931del	NP_001341824.1:p.Glu1309AspfsTer4
NM_001354896.2:c.3981_3985del	NP_001341825.1:p.Glu1327AspfsTer4
NM_001354897.2:c.3957_3961del	NP_001341826.1:p.Glu1319AspfsTer4
NM_001354898.2:c.3852_3856del	NP_001341827.1:p.Glu1284AspfsTer4
NM_001354899.2:c.3843_3847del	NP_001341828.1:p.Glu1281AspfsTer4
NM_001354900.2:c.3804_3808del	NP_001341829.1:p.Glu1268AspfsTer4
NM_001354901.2:c.3750_3754del	NP_001341830.1:p.Glu1250AspfsTer4
NM_001354902.2:c.3654_3658del	NP_001341831.1:p.Glu1218AspfsTer4
NM_001354903.2:c.3624_3628del	NP_001341832.1:p.Glu1208AspfsTer4
NM_001354904.2:c.3549_3553del	NP_001341833.1:p.Glu1183AspfsTer4
NM_001354905.2:c.3447_3451del	NP_001341834.1:p.Glu1149AspfsTer4
NM_001354906.2:c.3078_3082del	NP_001341835.1:p.Glu1026AspfsTer4