Canonical Allele Identifier: CA658655955

Gene: APC

Linked Data

• ClinVar Variation Id: 469982
• ClinVar RCV Id: RCV003742723
• dbSNP Id: rs1554086285
• MyVariant Identifiers: chr5:g.112176197dup (hg19) ; chr5:g.112840500dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840500dup , CM000667.2:g.112840500dup	GRCh38
NC_000005.9:g.112176197dup , CM000667.1:g.112176197dup	GRCh37
NC_000005.8:g.112204096dup	NCBI36
NG_008481.4:g.152980dup , LRG_130:g.152980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4960dup	ENSP00000473355.2:p.Asp1654GlyfsTer2
ENST00000505350.2:c.*4912dup	ENSP00000481752.1:n.*4912dup
ENST00000507379.6:c.4852dup	ENSP00000423224.2:p.Asp1618GlyfsTer2
ENST00000509732.6:c.4906dup	ENSP00000426541.2:p.Asp1636GlyfsTer2
ENST00000512211.7:c.4906dup	ENSP00000423828.3:p.Asp1636GlyfsTer2
ENST00000257430.9:c.4906dup MANE Select	ENSP00000257430.4:p.Asp1636GlyfsTer2
ENST00000257430.8:c.4906dup	ENSP00000257430.4:p.Asp1636GlyfsTer2
ENST00000508376.6:c.4906dup	ENSP00000427089.2:p.Asp1636GlyfsTer2
ENST00000508624.5:c.*4228dup	ENSP00000424265.1:n.*4228dup
ENST00000520401.1:c.230+11528dup
NM_000038.5:c.4906dup	NP_000029.2:p.Asp1636GlyfsTer2
NM_001127510.2:c.4906dup	NP_001120982.1:p.Asp1636GlyfsTer2
NM_001127511.2:c.4852dup	NP_001120983.2:p.Asp1618GlyfsTer2
NM_001354895.1:c.4906dup	NP_001341824.1:p.Asp1636GlyfsTer2
NM_001354896.1:c.4960dup	NP_001341825.1:p.Asp1654GlyfsTer2
NM_001354897.1:c.4936dup	NP_001341826.1:p.Asp1646GlyfsTer2
NM_001354898.1:c.4831dup	NP_001341827.1:p.Asp1611GlyfsTer2
NM_001354899.1:c.4822dup	NP_001341828.1:p.Asp1608GlyfsTer2
NM_001354900.1:c.4783dup	NP_001341829.1:p.Asp1595GlyfsTer2
NM_001354901.1:c.4729dup	NP_001341830.1:p.Asp1577GlyfsTer2
NM_001354902.1:c.4633dup	NP_001341831.1:p.Asp1545GlyfsTer2
NM_001354903.1:c.4603dup	NP_001341832.1:p.Asp1535GlyfsTer2
NM_001354904.1:c.4528dup	NP_001341833.1:p.Asp1510GlyfsTer2
NM_001354905.1:c.4426dup	NP_001341834.1:p.Asp1476GlyfsTer2
NM_001354906.1:c.4057dup	NP_001341835.1:p.Asp1353GlyfsTer2
NM_000038.6:c.4906dup MANE Select	NP_000029.2:p.Asp1636GlyfsTer2
NM_001127510.3:c.4906dup	NP_001120982.1:p.Asp1636GlyfsTer2
NM_001127511.3:c.4852dup	NP_001120983.2:p.Asp1618GlyfsTer2
NM_001354895.2:c.4906dup	NP_001341824.1:p.Asp1636GlyfsTer2
NM_001354896.2:c.4960dup	NP_001341825.1:p.Asp1654GlyfsTer2
NM_001354897.2:c.4936dup	NP_001341826.1:p.Asp1646GlyfsTer2
NM_001354898.2:c.4831dup	NP_001341827.1:p.Asp1611GlyfsTer2
NM_001354899.2:c.4822dup	NP_001341828.1:p.Asp1608GlyfsTer2
NM_001354900.2:c.4783dup	NP_001341829.1:p.Asp1595GlyfsTer2
NM_001354901.2:c.4729dup	NP_001341830.1:p.Asp1577GlyfsTer2
NM_001354902.2:c.4633dup	NP_001341831.1:p.Asp1545GlyfsTer2
NM_001354903.2:c.4603dup	NP_001341832.1:p.Asp1535GlyfsTer2
NM_001354904.2:c.4528dup	NP_001341833.1:p.Asp1510GlyfsTer2
NM_001354905.2:c.4426dup	NP_001341834.1:p.Asp1476GlyfsTer2
NM_001354906.2:c.4057dup	NP_001341835.1:p.Asp1353GlyfsTer2