Canonical Allele Identifier: CA1139658987

Gene: APC

Linked Data

• ClinVar Variation Id: 959859
• ClinVar RCV Id: RCV002567879 ; RCV003650824
• dbSNP Id: rs1762844479

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819185dup , CM000667.2:g.112819185dup	GRCh38
NC_000005.9:g.112154882dup , CM000667.1:g.112154882dup	GRCh37
NC_000005.8:g.112182781dup	NCBI36
NG_008481.4:g.131665dup , LRG_130:g.131665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1153dup	ENSP00000484935.2:p.Ala385GlyfsTer12
ENST00000504915.3:c.1153dup	ENSP00000473355.2:p.Ala385GlyfsTer12
ENST00000505084.2:n.1209dup
ENST00000505350.2:c.*1159dup	ENSP00000481752.1:n.*1159dup
ENST00000507379.6:c.1099dup	ENSP00000423224.2:p.Ala367GlyfsTer12
ENST00000509732.6:c.1153dup	ENSP00000426541.2:p.Ala385GlyfsTer12
ENST00000512211.7:c.1153dup	ENSP00000423828.3:p.Ala385GlyfsTer12
ENST00000257430.9:c.1153dup MANE Select	ENSP00000257430.4:p.Ala385GlyfsTer12
ENST00000257430.8:c.1153dup	ENSP00000257430.4:p.Ala385GlyfsTer12
ENST00000507379.5:c.1099dup	ENSP00000423224.1:p.Ala367GlyfsTer12
ENST00000508376.6:c.1153dup	ENSP00000427089.2:p.Ala385GlyfsTer12
ENST00000508624.5:c.*475dup	ENSP00000424265.1:n.*475dup
ENST00000512211.6:c.1153dup	ENSP00000423828.2:p.Ala385GlyfsTer12
NM_000038.5:c.1153dup	NP_000029.2:p.Ala385GlyfsTer12
NM_001127510.2:c.1153dup	NP_001120982.1:p.Ala385GlyfsTer12
NM_001127511.2:c.1099dup	NP_001120983.2:p.Ala367GlyfsTer12
NM_001354895.1:c.1153dup	NP_001341824.1:p.Ala385GlyfsTer12
NM_001354896.1:c.1153dup	NP_001341825.1:p.Ala385GlyfsTer12
NM_001354897.1:c.1183dup	NP_001341826.1:p.Ala395GlyfsTer12
NM_001354898.1:c.1078dup	NP_001341827.1:p.Ala360GlyfsTer12
NM_001354899.1:c.1069dup	NP_001341828.1:p.Ala357GlyfsTer12
NM_001354900.1:c.976dup	NP_001341829.1:p.Ala326GlyfsTer12
NM_001354901.1:c.976dup	NP_001341830.1:p.Ala326GlyfsTer12
NM_001354902.1:c.964-84dup	NP_001341831.1:n.964-84dup
NM_001354903.1:c.934-84dup	NP_001341832.1:n.934-84dup
NM_001354904.1:c.859-84dup	NP_001341833.1:n.859-84dup
NM_001354905.1:c.757-84dup	NP_001341834.1:n.757-84dup
NM_001354906.1:c.304dup	NP_001341835.1:p.Ala102GlyfsTer12
NM_000038.6:c.1153dup MANE Select	NP_000029.2:p.Ala385GlyfsTer12
NM_001127510.3:c.1153dup	NP_001120982.1:p.Ala385GlyfsTer12
NM_001127511.3:c.1099dup	NP_001120983.2:p.Ala367GlyfsTer12
NM_001354895.2:c.1153dup	NP_001341824.1:p.Ala385GlyfsTer12
NM_001354896.2:c.1153dup	NP_001341825.1:p.Ala385GlyfsTer12
NM_001354897.2:c.1183dup	NP_001341826.1:p.Ala395GlyfsTer12
NM_001354898.2:c.1078dup	NP_001341827.1:p.Ala360GlyfsTer12
NM_001354899.2:c.1069dup	NP_001341828.1:p.Ala357GlyfsTer12
NM_001354900.2:c.976dup	NP_001341829.1:p.Ala326GlyfsTer12
NM_001354901.2:c.976dup	NP_001341830.1:p.Ala326GlyfsTer12
NM_001354902.2:c.964-84dup	NP_001341831.1:n.964-84dup
NM_001354903.2:c.934-84dup	NP_001341832.1:n.934-84dup
NM_001354904.2:c.859-84dup	NP_001341833.1:n.859-84dup
NM_001354905.2:c.757-84dup	NP_001341834.1:n.757-84dup
NM_001354906.2:c.304dup	NP_001341835.1:p.Ala102GlyfsTer12