Canonical Allele Identifier: CA645369364

Gene: APC

Linked Data

• ClinVar Variation Id: 428105
• ClinVar RCV Id: RCV000491110
• dbSNP Id: rs1114167554
• MyVariant Identifiers: chr5:g.112174638del (hg19) ; chr5:g.112838941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838941del , CM000667.2:g.112838941del	GRCh38
NC_000005.9:g.112174638del , CM000667.1:g.112174638del	GRCh37
NC_000005.8:g.112202537del	NCBI36
NG_008481.4:g.151421del , LRG_130:g.151421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3012del	ENSP00000484935.2:n.3012del
ENST00000504915.3:c.3401del	ENSP00000473355.2:p.Gly1134ValfsTer10
ENST00000505350.2:c.*3353del	ENSP00000481752.1:n.*3353del
ENST00000507379.6:c.3293del	ENSP00000423224.2:p.Gly1098ValfsTer10
ENST00000509732.6:c.3347del	ENSP00000426541.2:p.Gly1116ValfsTer10
ENST00000512211.7:c.3347del	ENSP00000423828.3:p.Gly1116ValfsTer10
ENST00000257430.9:c.3347del MANE Select	ENSP00000257430.4:p.Gly1116ValfsTer10
ENST00000257430.8:c.3347del	ENSP00000257430.4:p.Gly1116ValfsTer10
ENST00000502371.2:c.1700del
ENST00000507379.5:c.3293del	ENSP00000423224.1:p.Gly1098ValfsTer10
ENST00000508376.6:c.3347del	ENSP00000427089.2:p.Gly1116ValfsTer10
ENST00000508624.5:c.*2669del	ENSP00000424265.1:n.*2669del
ENST00000512211.6:c.3347del	ENSP00000423828.2:p.Gly1116ValfsTer10
ENST00000520401.1:c.230+9969del
NM_000038.5:c.3347del	NP_000029.2:p.Gly1116ValfsTer10
NM_001127510.2:c.3347del	NP_001120982.1:p.Gly1116ValfsTer10
NM_001127511.2:c.3293del	NP_001120983.2:p.Gly1098ValfsTer10
NM_001354895.1:c.3347del	NP_001341824.1:p.Gly1116ValfsTer10
NM_001354896.1:c.3401del	NP_001341825.1:p.Gly1134ValfsTer10
NM_001354897.1:c.3377del	NP_001341826.1:p.Gly1126ValfsTer10
NM_001354898.1:c.3272del	NP_001341827.1:p.Gly1091ValfsTer10
NM_001354899.1:c.3263del	NP_001341828.1:p.Gly1088ValfsTer10
NM_001354900.1:c.3224del	NP_001341829.1:p.Gly1075ValfsTer10
NM_001354901.1:c.3170del	NP_001341830.1:p.Gly1057ValfsTer10
NM_001354902.1:c.3074del	NP_001341831.1:p.Gly1025ValfsTer10
NM_001354903.1:c.3044del	NP_001341832.1:p.Gly1015ValfsTer10
NM_001354904.1:c.2969del	NP_001341833.1:p.Gly990ValfsTer10
NM_001354905.1:c.2867del	NP_001341834.1:p.Gly956ValfsTer10
NM_001354906.1:c.2498del	NP_001341835.1:p.Gly833ValfsTer10
NM_000038.6:c.3347del MANE Select	NP_000029.2:p.Gly1116ValfsTer10
NM_001127510.3:c.3347del	NP_001120982.1:p.Gly1116ValfsTer10
NM_001127511.3:c.3293del	NP_001120983.2:p.Gly1098ValfsTer10
NM_001354895.2:c.3347del	NP_001341824.1:p.Gly1116ValfsTer10
NM_001354896.2:c.3401del	NP_001341825.1:p.Gly1134ValfsTer10
NM_001354897.2:c.3377del	NP_001341826.1:p.Gly1126ValfsTer10
NM_001354898.2:c.3272del	NP_001341827.1:p.Gly1091ValfsTer10
NM_001354899.2:c.3263del	NP_001341828.1:p.Gly1088ValfsTer10
NM_001354900.2:c.3224del	NP_001341829.1:p.Gly1075ValfsTer10
NM_001354901.2:c.3170del	NP_001341830.1:p.Gly1057ValfsTer10
NM_001354902.2:c.3074del	NP_001341831.1:p.Gly1025ValfsTer10
NM_001354903.2:c.3044del	NP_001341832.1:p.Gly1015ValfsTer10
NM_001354904.2:c.2969del	NP_001341833.1:p.Gly990ValfsTer10
NM_001354905.2:c.2867del	NP_001341834.1:p.Gly956ValfsTer10
NM_001354906.2:c.2498del	NP_001341835.1:p.Gly833ValfsTer10