Canonical Allele Identifier: CA2573138822

Gene: APC

Linked Data

• ClinVar Variation Id: 1454076
• ClinVar RCV Id: RCV003337385
• dbSNP Id: rs2149781846

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819190_112819191dup , CM000667.2:g.112819190_112819191dup	GRCh38
NC_000005.9:g.112154887_112154888dup , CM000667.1:g.112154887_112154888dup	GRCh37
NC_000005.8:g.112182786_112182787dup	NCBI36
NG_008481.4:g.131670_131671dup , LRG_130:g.131670_131671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1158_1159dup	ENSP00000484935.2:p.Leu387HisfsTer?
ENST00000504915.3:c.1158_1159dup	ENSP00000473355.2:p.Leu387HisfsTer?
ENST00000505084.2:n.1214_1215dup
ENST00000505350.2:c.*1164_*1165dup	ENSP00000481752.1:n.*1164_*1165dup
ENST00000507379.6:c.1104_1105dup	ENSP00000423224.2:p.Leu369HisfsTer?
ENST00000509732.6:c.1158_1159dup	ENSP00000426541.2:p.Leu387HisfsTer?
ENST00000512211.7:c.1158_1159dup	ENSP00000423828.3:p.Leu387HisfsTer?
ENST00000257430.9:c.1158_1159dup MANE Select	ENSP00000257430.4:p.Leu387HisfsTer?
ENST00000257430.8:c.1158_1159dup	ENSP00000257430.4:p.Leu387HisfsTer?
ENST00000507379.5:c.1104_1105dup	ENSP00000423224.1:p.Leu369HisfsTer?
ENST00000508376.6:c.1158_1159dup	ENSP00000427089.2:p.Leu387HisfsTer?
ENST00000508624.5:c.*480_*481dup	ENSP00000424265.1:n.*480_*481dup
ENST00000512211.6:c.1158_1159dup	ENSP00000423828.2:p.Leu387HisfsTer?
NM_000038.5:c.1158_1159dup	NP_000029.2:p.Leu387HisfsTer?
NM_001127510.2:c.1158_1159dup	NP_001120982.1:p.Leu387HisfsTer?
NM_001127511.2:c.1104_1105dup	NP_001120983.2:p.Leu369HisfsTer?
NM_001354895.1:c.1158_1159dup	NP_001341824.1:p.Leu387HisfsTer?
NM_001354896.1:c.1158_1159dup	NP_001341825.1:p.Leu387HisfsTer?
NM_001354897.1:c.1188_1189dup	NP_001341826.1:p.Leu397HisfsTer?
NM_001354898.1:c.1083_1084dup	NP_001341827.1:p.Leu362HisfsTer?
NM_001354899.1:c.1074_1075dup	NP_001341828.1:p.Leu359HisfsTer?
NM_001354900.1:c.981_982dup	NP_001341829.1:p.Leu328HisfsTer?
NM_001354901.1:c.981_982dup	NP_001341830.1:p.Leu328HisfsTer?
NM_001354902.1:c.964-79_964-78dup	NP_001341831.1:n.964-79_964-78dup
NM_001354903.1:c.934-79_934-78dup	NP_001341832.1:n.934-79_934-78dup
NM_001354904.1:c.859-79_859-78dup	NP_001341833.1:n.859-79_859-78dup
NM_001354905.1:c.757-79_757-78dup	NP_001341834.1:n.757-79_757-78dup
NM_001354906.1:c.309_310dup	NP_001341835.1:p.Leu104HisfsTer?
NM_000038.6:c.1158_1159dup MANE Select	NP_000029.2:p.Leu387HisfsTer?
NM_001127510.3:c.1158_1159dup	NP_001120982.1:p.Leu387HisfsTer?
NM_001127511.3:c.1104_1105dup	NP_001120983.2:p.Leu369HisfsTer?
NM_001354895.2:c.1158_1159dup	NP_001341824.1:p.Leu387HisfsTer?
NM_001354896.2:c.1158_1159dup	NP_001341825.1:p.Leu387HisfsTer?
NM_001354897.2:c.1188_1189dup	NP_001341826.1:p.Leu397HisfsTer?
NM_001354898.2:c.1083_1084dup	NP_001341827.1:p.Leu362HisfsTer?
NM_001354899.2:c.1074_1075dup	NP_001341828.1:p.Leu359HisfsTer?
NM_001354900.2:c.981_982dup	NP_001341829.1:p.Leu328HisfsTer?
NM_001354901.2:c.981_982dup	NP_001341830.1:p.Leu328HisfsTer?
NM_001354902.2:c.964-79_964-78dup	NP_001341831.1:n.964-79_964-78dup
NM_001354903.2:c.934-79_934-78dup	NP_001341832.1:n.934-79_934-78dup
NM_001354904.2:c.859-79_859-78dup	NP_001341833.1:n.859-79_859-78dup
NM_001354905.2:c.757-79_757-78dup	NP_001341834.1:n.757-79_757-78dup
NM_001354906.2:c.309_310dup	NP_001341835.1:p.Leu104HisfsTer?