Canonical Allele Identifier: CA645369369

Gene: APC

Linked Data

• ClinVar Variation Id: 428185
• ClinVar RCV Id: RCV000490829
• dbSNP Id: rs1114167616
• MyVariant Identifiers: chr5:g.112174677del (hg19) ; chr5:g.112838980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838980del , CM000667.2:g.112838980del	GRCh38
NC_000005.9:g.112174677del , CM000667.1:g.112174677del	GRCh37
NC_000005.8:g.112202576del	NCBI36
NG_008481.4:g.151460del , LRG_130:g.151460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3051del	ENSP00000484935.2:n.3051del
ENST00000504915.3:c.3440del	ENSP00000473355.2:p.Leu1147CysfsTer?
ENST00000505350.2:c.*3392del	ENSP00000481752.1:n.*3392del
ENST00000507379.6:c.3332del	ENSP00000423224.2:p.Leu1111CysfsTer?
ENST00000509732.6:c.3386del	ENSP00000426541.2:p.Leu1129CysfsTer?
ENST00000512211.7:c.3386del	ENSP00000423828.3:p.Leu1129CysfsTer?
ENST00000257430.9:c.3386del MANE Select	ENSP00000257430.4:p.Leu1129CysfsTer?
ENST00000257430.8:c.3386del	ENSP00000257430.4:p.Leu1129CysfsTer?
ENST00000502371.2:c.1739del
ENST00000507379.5:c.3332del	ENSP00000423224.1:p.Leu1111CysfsTer?
ENST00000508376.6:c.3386del	ENSP00000427089.2:p.Leu1129CysfsTer?
ENST00000508624.5:c.*2708del	ENSP00000424265.1:n.*2708del
ENST00000512211.6:c.3386del	ENSP00000423828.2:p.Leu1129CysfsTer?
ENST00000520401.1:c.230+10008del
NM_000038.5:c.3386del	NP_000029.2:p.Leu1129CysfsTer?
NM_001127510.2:c.3386del	NP_001120982.1:p.Leu1129CysfsTer?
NM_001127511.2:c.3332del	NP_001120983.2:p.Leu1111CysfsTer?
NM_001354895.1:c.3386del	NP_001341824.1:p.Leu1129CysfsTer?
NM_001354896.1:c.3440del	NP_001341825.1:p.Leu1147CysfsTer?
NM_001354897.1:c.3416del	NP_001341826.1:p.Leu1139CysfsTer?
NM_001354898.1:c.3311del	NP_001341827.1:p.Leu1104CysfsTer?
NM_001354899.1:c.3302del	NP_001341828.1:p.Leu1101CysfsTer?
NM_001354900.1:c.3263del	NP_001341829.1:p.Leu1088CysfsTer?
NM_001354901.1:c.3209del	NP_001341830.1:p.Leu1070CysfsTer?
NM_001354902.1:c.3113del	NP_001341831.1:p.Leu1038CysfsTer?
NM_001354903.1:c.3083del	NP_001341832.1:p.Leu1028CysfsTer?
NM_001354904.1:c.3008del	NP_001341833.1:p.Leu1003CysfsTer?
NM_001354905.1:c.2906del	NP_001341834.1:p.Leu969CysfsTer?
NM_001354906.1:c.2537del	NP_001341835.1:p.Leu846CysfsTer?
NM_000038.6:c.3386del MANE Select	NP_000029.2:p.Leu1129CysfsTer?
NM_001127510.3:c.3386del	NP_001120982.1:p.Leu1129CysfsTer?
NM_001127511.3:c.3332del	NP_001120983.2:p.Leu1111CysfsTer?
NM_001354895.2:c.3386del	NP_001341824.1:p.Leu1129CysfsTer?
NM_001354896.2:c.3440del	NP_001341825.1:p.Leu1147CysfsTer?
NM_001354897.2:c.3416del	NP_001341826.1:p.Leu1139CysfsTer?
NM_001354898.2:c.3311del	NP_001341827.1:p.Leu1104CysfsTer?
NM_001354899.2:c.3302del	NP_001341828.1:p.Leu1101CysfsTer?
NM_001354900.2:c.3263del	NP_001341829.1:p.Leu1088CysfsTer?
NM_001354901.2:c.3209del	NP_001341830.1:p.Leu1070CysfsTer?
NM_001354902.2:c.3113del	NP_001341831.1:p.Leu1038CysfsTer?
NM_001354903.2:c.3083del	NP_001341832.1:p.Leu1028CysfsTer?
NM_001354904.2:c.3008del	NP_001341833.1:p.Leu1003CysfsTer?
NM_001354905.2:c.2906del	NP_001341834.1:p.Leu969CysfsTer?
NM_001354906.2:c.2537del	NP_001341835.1:p.Leu846CysfsTer?