Canonical Allele Identifier: CA802028346

Gene: APC

Linked Data

• ClinVar Variation Id: 2584007
• ClinVar RCV Id: RCV003334929 ; RCV003475568 ; RCV004009751
• dbSNP Id: rs1309569258
• MyVariant Identifiers: chr5:g.112179136_112179140del (hg19) ; chr5:g.112843439_112843443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843443_112843447del , CM000667.2:g.112843443_112843447del	GRCh38
NC_000005.9:g.112179140_112179144del , CM000667.1:g.112179140_112179144del	GRCh37
NC_000005.8:g.112207039_112207043del	NCBI36
NG_008481.4:g.155923_155927del , LRG_130:g.155923_155927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7903_7907del	ENSP00000473355.2:p.Glu2635Ter
ENST00000505350.2:c.*7855_*7859del	ENSP00000481752.1:n.*7855_*7859del
ENST00000507379.6:c.7795_7799del	ENSP00000423224.2:p.Glu2599Ter
ENST00000509732.6:c.7849_7853del	ENSP00000426541.2:p.Glu2617Ter
ENST00000512211.7:c.7849_7853del	ENSP00000423828.3:p.Glu2617Ter
ENST00000257430.9:c.7849_7853del MANE Select	ENSP00000257430.4:p.Glu2617Ter
ENST00000257430.8:c.7849_7853del	ENSP00000257430.4:p.Glu2617Ter
ENST00000508376.6:c.7849_7853del	ENSP00000427089.2:p.Glu2617Ter
ENST00000520401.1:c.231-13206_231-13202del
NM_000038.5:c.7849_7853del	NP_000029.2:p.Glu2617Ter
NM_001127510.2:c.7849_7853del	NP_001120982.1:p.Glu2617Ter
NM_001127511.2:c.7795_7799del	NP_001120983.2:p.Glu2599Ter
NM_001354895.1:c.7849_7853del	NP_001341824.1:p.Glu2617Ter
NM_001354896.1:c.7903_7907del	NP_001341825.1:p.Glu2635Ter
NM_001354897.1:c.7879_7883del	NP_001341826.1:p.Glu2627Ter
NM_001354898.1:c.7774_7778del	NP_001341827.1:p.Glu2592Ter
NM_001354899.1:c.7765_7769del	NP_001341828.1:p.Glu2589Ter
NM_001354900.1:c.7726_7730del	NP_001341829.1:p.Glu2576Ter
NM_001354901.1:c.7672_7676del	NP_001341830.1:p.Glu2558Ter
NM_001354902.1:c.7576_7580del	NP_001341831.1:p.Glu2526Ter
NM_001354903.1:c.7546_7550del	NP_001341832.1:p.Glu2516Ter
NM_001354904.1:c.7471_7475del	NP_001341833.1:p.Glu2491Ter
NM_001354905.1:c.7369_7373del	NP_001341834.1:p.Glu2457Ter
NM_001354906.1:c.7000_7004del	NP_001341835.1:p.Glu2334Ter
NM_000038.6:c.7849_7853del MANE Select	NP_000029.2:p.Glu2617Ter
NM_001127510.3:c.7849_7853del	NP_001120982.1:p.Glu2617Ter
NM_001127511.3:c.7795_7799del	NP_001120983.2:p.Glu2599Ter
NM_001354895.2:c.7849_7853del	NP_001341824.1:p.Glu2617Ter
NM_001354896.2:c.7903_7907del	NP_001341825.1:p.Glu2635Ter
NM_001354897.2:c.7879_7883del	NP_001341826.1:p.Glu2627Ter
NM_001354898.2:c.7774_7778del	NP_001341827.1:p.Glu2592Ter
NM_001354899.2:c.7765_7769del	NP_001341828.1:p.Glu2589Ter
NM_001354900.2:c.7726_7730del	NP_001341829.1:p.Glu2576Ter
NM_001354901.2:c.7672_7676del	NP_001341830.1:p.Glu2558Ter
NM_001354902.2:c.7576_7580del	NP_001341831.1:p.Glu2526Ter
NM_001354903.2:c.7546_7550del	NP_001341832.1:p.Glu2516Ter
NM_001354904.2:c.7471_7475del	NP_001341833.1:p.Glu2491Ter
NM_001354905.2:c.7369_7373del	NP_001341834.1:p.Glu2457Ter
NM_001354906.2:c.7000_7004del	NP_001341835.1:p.Glu2334Ter