Canonical Allele Identifier: CA2573138673

Gene: APC

Linked Data

• ClinVar Variation Id: 1403039
• ClinVar RCV Id: RCV003772762
• dbSNP Id: rs2149989437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843146_112843148del , CM000667.2:g.112843146_112843148del	GRCh38
NC_000005.9:g.112178843_112178845del , CM000667.1:g.112178843_112178845del	GRCh37
NC_000005.8:g.112206742_112206744del	NCBI36
NG_008481.4:g.155626_155628del , LRG_130:g.155626_155628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7606_7608del	ENSP00000473355.2:p.Asn2536del
ENST00000505350.2:c.*7558_*7560del	ENSP00000481752.1:n.*7558_*7560del
ENST00000507379.6:c.7498_7500del	ENSP00000423224.2:p.Asn2500del
ENST00000509732.6:c.7552_7554del	ENSP00000426541.2:p.Asn2518del
ENST00000512211.7:c.7552_7554del	ENSP00000423828.3:p.Asn2518del
ENST00000257430.9:c.7552_7554del MANE Select	ENSP00000257430.4:p.Asn2518del
ENST00000257430.8:c.7552_7554del	ENSP00000257430.4:p.Asn2518del
ENST00000508376.6:c.7552_7554del	ENSP00000427089.2:p.Asn2518del
ENST00000520401.1:c.231-13503_231-13501del
NM_000038.5:c.7552_7554del	NP_000029.2:p.Asn2518del
NM_001127510.2:c.7552_7554del	NP_001120982.1:p.Asn2518del
NM_001127511.2:c.7498_7500del	NP_001120983.2:p.Asn2500del
NM_001354895.1:c.7552_7554del	NP_001341824.1:p.Asn2518del
NM_001354896.1:c.7606_7608del	NP_001341825.1:p.Asn2536del
NM_001354897.1:c.7582_7584del	NP_001341826.1:p.Asn2528del
NM_001354898.1:c.7477_7479del	NP_001341827.1:p.Asn2493del
NM_001354899.1:c.7468_7470del	NP_001341828.1:p.Asn2490del
NM_001354900.1:c.7429_7431del	NP_001341829.1:p.Asn2477del
NM_001354901.1:c.7375_7377del	NP_001341830.1:p.Asn2459del
NM_001354902.1:c.7279_7281del	NP_001341831.1:p.Asn2427del
NM_001354903.1:c.7249_7251del	NP_001341832.1:p.Asn2417del
NM_001354904.1:c.7174_7176del	NP_001341833.1:p.Asn2392del
NM_001354905.1:c.7072_7074del	NP_001341834.1:p.Asn2358del
NM_001354906.1:c.6703_6705del	NP_001341835.1:p.Asn2235del
NM_000038.6:c.7552_7554del MANE Select	NP_000029.2:p.Asn2518del
NM_001127510.3:c.7552_7554del	NP_001120982.1:p.Asn2518del
NM_001127511.3:c.7498_7500del	NP_001120983.2:p.Asn2500del
NM_001354895.2:c.7552_7554del	NP_001341824.1:p.Asn2518del
NM_001354896.2:c.7606_7608del	NP_001341825.1:p.Asn2536del
NM_001354897.2:c.7582_7584del	NP_001341826.1:p.Asn2528del
NM_001354898.2:c.7477_7479del	NP_001341827.1:p.Asn2493del
NM_001354899.2:c.7468_7470del	NP_001341828.1:p.Asn2490del
NM_001354900.2:c.7429_7431del	NP_001341829.1:p.Asn2477del
NM_001354901.2:c.7375_7377del	NP_001341830.1:p.Asn2459del
NM_001354902.2:c.7279_7281del	NP_001341831.1:p.Asn2427del
NM_001354903.2:c.7249_7251del	NP_001341832.1:p.Asn2417del
NM_001354904.2:c.7174_7176del	NP_001341833.1:p.Asn2392del
NM_001354905.2:c.7072_7074del	NP_001341834.1:p.Asn2358del
NM_001354906.2:c.6703_6705del	NP_001341835.1:p.Asn2235del