Canonical Allele Identifier: CA658657464

Gene: APC

Linked Data

• ClinVar Variation Id: 482518
• ClinVar RCV Id: RCV000572826
• dbSNP Id: rs1554088632
• MyVariant Identifiers: chr5:g.112179035del (hg19) ; chr5:g.112843338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843338del , CM000667.2:g.112843338del	GRCh38
NC_000005.9:g.112179035del , CM000667.1:g.112179035del	GRCh37
NC_000005.8:g.112206934del	NCBI36
NG_008481.4:g.155818del , LRG_130:g.155818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7798del	ENSP00000473355.2:p.Glu2600LysfsTer11
ENST00000505350.2:c.*7750del	ENSP00000481752.1:n.*7750del
ENST00000507379.6:c.7690del	ENSP00000423224.2:p.Glu2564LysfsTer11
ENST00000509732.6:c.7744del	ENSP00000426541.2:p.Glu2582LysfsTer11
ENST00000512211.7:c.7744del	ENSP00000423828.3:p.Glu2582LysfsTer11
ENST00000257430.9:c.7744del MANE Select	ENSP00000257430.4:p.Glu2582LysfsTer11
ENST00000257430.8:c.7744del	ENSP00000257430.4:p.Glu2582LysfsTer11
ENST00000508376.6:c.7744del	ENSP00000427089.2:p.Glu2582LysfsTer11
ENST00000520401.1:c.231-13311del
NM_000038.5:c.7744del	NP_000029.2:p.Glu2582LysfsTer11
NM_001127510.2:c.7744del	NP_001120982.1:p.Glu2582LysfsTer11
NM_001127511.2:c.7690del	NP_001120983.2:p.Glu2564LysfsTer11
NM_001354895.1:c.7744del	NP_001341824.1:p.Glu2582LysfsTer11
NM_001354896.1:c.7798del	NP_001341825.1:p.Glu2600LysfsTer11
NM_001354897.1:c.7774del	NP_001341826.1:p.Glu2592LysfsTer11
NM_001354898.1:c.7669del	NP_001341827.1:p.Glu2557LysfsTer11
NM_001354899.1:c.7660del	NP_001341828.1:p.Glu2554LysfsTer11
NM_001354900.1:c.7621del	NP_001341829.1:p.Glu2541LysfsTer11
NM_001354901.1:c.7567del	NP_001341830.1:p.Glu2523LysfsTer11
NM_001354902.1:c.7471del	NP_001341831.1:p.Glu2491LysfsTer11
NM_001354903.1:c.7441del	NP_001341832.1:p.Glu2481LysfsTer11
NM_001354904.1:c.7366del	NP_001341833.1:p.Glu2456LysfsTer11
NM_001354905.1:c.7264del	NP_001341834.1:p.Glu2422LysfsTer11
NM_001354906.1:c.6895del	NP_001341835.1:p.Glu2299LysfsTer11
NM_000038.6:c.7744del MANE Select	NP_000029.2:p.Glu2582LysfsTer11
NM_001127510.3:c.7744del	NP_001120982.1:p.Glu2582LysfsTer11
NM_001127511.3:c.7690del	NP_001120983.2:p.Glu2564LysfsTer11
NM_001354895.2:c.7744del	NP_001341824.1:p.Glu2582LysfsTer11
NM_001354896.2:c.7798del	NP_001341825.1:p.Glu2600LysfsTer11
NM_001354897.2:c.7774del	NP_001341826.1:p.Glu2592LysfsTer11
NM_001354898.2:c.7669del	NP_001341827.1:p.Glu2557LysfsTer11
NM_001354899.2:c.7660del	NP_001341828.1:p.Glu2554LysfsTer11
NM_001354900.2:c.7621del	NP_001341829.1:p.Glu2541LysfsTer11
NM_001354901.2:c.7567del	NP_001341830.1:p.Glu2523LysfsTer11
NM_001354902.2:c.7471del	NP_001341831.1:p.Glu2491LysfsTer11
NM_001354903.2:c.7441del	NP_001341832.1:p.Glu2481LysfsTer11
NM_001354904.2:c.7366del	NP_001341833.1:p.Glu2456LysfsTer11
NM_001354905.2:c.7264del	NP_001341834.1:p.Glu2422LysfsTer11
NM_001354906.2:c.6895del	NP_001341835.1:p.Glu2299LysfsTer11