Canonical Allele Identifier: CA041117

Gene: APC

Linked Data

• ClinVar Variation Id: 482242
• ClinVar RCV Id: RCV000564841 ; RCV003237934 ; RCV003537099
• dbSNP Id: rs780061589
• ExAC: 5:112176556 GTCT / G
• gnomAD v2: 5-112176556-GTCT-G
• gnomAD v3: 5-112840859-GTCT-G
• gnomAD v4: 5-112840859-GTCT-G
• MyVariant Identifiers: chr5:g.112176563_112176565del (hg19) ; chr5:g.112176557_112176559del (hg19) ; chr5:g.112840866_112840868del (hg38) ; chr5:g.112840860_112840862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840866_112840868del , CM000667.2:g.112840866_112840868del	GRCh38
NC_000005.9:g.112176563_112176565del , CM000667.1:g.112176563_112176565del	GRCh37
NC_000005.8:g.112204462_112204464del	NCBI36
NG_008481.4:g.153346_153348del , LRG_130:g.153346_153348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5326_5328del	ENSP00000473355.2:p.Ser1776del
ENST00000505350.2:c.*5278_*5280del	ENSP00000481752.1:n.*5278_*5280del
ENST00000507379.6:c.5218_5220del	ENSP00000423224.2:p.Ser1740del
ENST00000509732.6:c.5272_5274del	ENSP00000426541.2:p.Ser1758del
ENST00000512211.7:c.5272_5274del	ENSP00000423828.3:p.Ser1758del
ENST00000257430.9:c.5272_5274del MANE Select	ENSP00000257430.4:p.Ser1758del
ENST00000257430.8:c.5272_5274del	ENSP00000257430.4:p.Ser1758del
ENST00000508376.6:c.5272_5274del	ENSP00000427089.2:p.Ser1758del
ENST00000508624.5:c.*4594_*4596del	ENSP00000424265.1:n.*4594_*4596del
ENST00000520401.1:c.230+11894_230+11896del
NM_000038.5:c.5272_5274del	NP_000029.2:p.Ser1758del
NM_001127510.2:c.5272_5274del	NP_001120982.1:p.Ser1758del
NM_001127511.2:c.5218_5220del	NP_001120983.2:p.Ser1740del
NM_001354895.1:c.5272_5274del	NP_001341824.1:p.Ser1758del
NM_001354896.1:c.5326_5328del	NP_001341825.1:p.Ser1776del
NM_001354897.1:c.5302_5304del	NP_001341826.1:p.Ser1768del
NM_001354898.1:c.5197_5199del	NP_001341827.1:p.Ser1733del
NM_001354899.1:c.5188_5190del	NP_001341828.1:p.Ser1730del
NM_001354900.1:c.5149_5151del	NP_001341829.1:p.Ser1717del
NM_001354901.1:c.5095_5097del	NP_001341830.1:p.Ser1699del
NM_001354902.1:c.4999_5001del	NP_001341831.1:p.Ser1667del
NM_001354903.1:c.4969_4971del	NP_001341832.1:p.Ser1657del
NM_001354904.1:c.4894_4896del	NP_001341833.1:p.Ser1632del
NM_001354905.1:c.4792_4794del	NP_001341834.1:p.Ser1598del
NM_001354906.1:c.4423_4425del	NP_001341835.1:p.Ser1475del
NM_000038.6:c.5272_5274del MANE Select	NP_000029.2:p.Ser1758del
NM_001127510.3:c.5272_5274del	NP_001120982.1:p.Ser1758del
NM_001127511.3:c.5218_5220del	NP_001120983.2:p.Ser1740del
NM_001354895.2:c.5272_5274del	NP_001341824.1:p.Ser1758del
NM_001354896.2:c.5326_5328del	NP_001341825.1:p.Ser1776del
NM_001354897.2:c.5302_5304del	NP_001341826.1:p.Ser1768del
NM_001354898.2:c.5197_5199del	NP_001341827.1:p.Ser1733del
NM_001354899.2:c.5188_5190del	NP_001341828.1:p.Ser1730del
NM_001354900.2:c.5149_5151del	NP_001341829.1:p.Ser1717del
NM_001354901.2:c.5095_5097del	NP_001341830.1:p.Ser1699del
NM_001354902.2:c.4999_5001del	NP_001341831.1:p.Ser1667del
NM_001354903.2:c.4969_4971del	NP_001341832.1:p.Ser1657del
NM_001354904.2:c.4894_4896del	NP_001341833.1:p.Ser1632del
NM_001354905.2:c.4792_4794del	NP_001341834.1:p.Ser1598del
NM_001354906.2:c.4423_4425del	NP_001341835.1:p.Ser1475del