Canonical Allele Identifier: CA658683424

Gene: APC

Linked Data

• ClinVar Variation Id: 492669
• ClinVar RCV Id: RCV000582122 ; RCV003451315
• dbSNP Id: rs1554086363
• MyVariant Identifiers: chr5:g.112176296_112176299del (hg19) ; chr5:g.112840599_112840602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840599_112840602del , CM000667.2:g.112840599_112840602del	GRCh38
NC_000005.9:g.112176296_112176299del , CM000667.1:g.112176296_112176299del	GRCh37
NC_000005.8:g.112204195_112204198del	NCBI36
NG_008481.4:g.153079_153082del , LRG_130:g.153079_153082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5059_5062del	ENSP00000473355.2:p.Ala1688LeufsTer?
ENST00000505350.2:c.*5011_*5014del	ENSP00000481752.1:n.*5011_*5014del
ENST00000507379.6:c.4951_4954del	ENSP00000423224.2:p.Ala1652LeufsTer?
ENST00000509732.6:c.5005_5008del	ENSP00000426541.2:p.Ala1670LeufsTer?
ENST00000512211.7:c.5005_5008del	ENSP00000423828.3:p.Ala1670LeufsTer?
ENST00000257430.9:c.5005_5008del MANE Select	ENSP00000257430.4:p.Ala1670LeufsTer?
ENST00000257430.8:c.5005_5008del	ENSP00000257430.4:p.Ala1670LeufsTer?
ENST00000508376.6:c.5005_5008del	ENSP00000427089.2:p.Ala1670LeufsTer?
ENST00000508624.5:c.*4327_*4330del	ENSP00000424265.1:n.*4327_*4330del
ENST00000520401.1:c.230+11627_230+11630del
NM_000038.5:c.5005_5008del	NP_000029.2:p.Ala1670LeufsTer?
NM_001127510.2:c.5005_5008del	NP_001120982.1:p.Ala1670LeufsTer?
NM_001127511.2:c.4951_4954del	NP_001120983.2:p.Ala1652LeufsTer?
NM_001354895.1:c.5005_5008del	NP_001341824.1:p.Ala1670LeufsTer?
NM_001354896.1:c.5059_5062del	NP_001341825.1:p.Ala1688LeufsTer?
NM_001354897.1:c.5035_5038del	NP_001341826.1:p.Ala1680LeufsTer?
NM_001354898.1:c.4930_4933del	NP_001341827.1:p.Ala1645LeufsTer?
NM_001354899.1:c.4921_4924del	NP_001341828.1:p.Ala1642LeufsTer?
NM_001354900.1:c.4882_4885del	NP_001341829.1:p.Ala1629LeufsTer?
NM_001354901.1:c.4828_4831del	NP_001341830.1:p.Ala1611LeufsTer?
NM_001354902.1:c.4732_4735del	NP_001341831.1:p.Ala1579LeufsTer?
NM_001354903.1:c.4702_4705del	NP_001341832.1:p.Ala1569LeufsTer?
NM_001354904.1:c.4627_4630del	NP_001341833.1:p.Ala1544LeufsTer?
NM_001354905.1:c.4525_4528del	NP_001341834.1:p.Ala1510LeufsTer?
NM_001354906.1:c.4156_4159del	NP_001341835.1:p.Ala1387LeufsTer?
NM_000038.6:c.5005_5008del MANE Select	NP_000029.2:p.Ala1670LeufsTer?
NM_001127510.3:c.5005_5008del	NP_001120982.1:p.Ala1670LeufsTer?
NM_001127511.3:c.4951_4954del	NP_001120983.2:p.Ala1652LeufsTer?
NM_001354895.2:c.5005_5008del	NP_001341824.1:p.Ala1670LeufsTer?
NM_001354896.2:c.5059_5062del	NP_001341825.1:p.Ala1688LeufsTer?
NM_001354897.2:c.5035_5038del	NP_001341826.1:p.Ala1680LeufsTer?
NM_001354898.2:c.4930_4933del	NP_001341827.1:p.Ala1645LeufsTer?
NM_001354899.2:c.4921_4924del	NP_001341828.1:p.Ala1642LeufsTer?
NM_001354900.2:c.4882_4885del	NP_001341829.1:p.Ala1629LeufsTer?
NM_001354901.2:c.4828_4831del	NP_001341830.1:p.Ala1611LeufsTer?
NM_001354902.2:c.4732_4735del	NP_001341831.1:p.Ala1579LeufsTer?
NM_001354903.2:c.4702_4705del	NP_001341832.1:p.Ala1569LeufsTer?
NM_001354904.2:c.4627_4630del	NP_001341833.1:p.Ala1544LeufsTer?
NM_001354905.2:c.4525_4528del	NP_001341834.1:p.Ala1510LeufsTer?
NM_001354906.2:c.4156_4159del	NP_001341835.1:p.Ala1387LeufsTer?