Canonical Allele Identifier: CA2674855945

Gene: APC

Linked Data

• gnomAD v4: 5-112840353-T-TCATCACGTAAAGCAAAAAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840356_112840376dup , CM000667.2:g.112840356_112840376dup	GRCh38
NC_000005.9:g.112176053_112176073dup , CM000667.1:g.112176053_112176073dup	GRCh37
NC_000005.8:g.112203952_112203972dup	NCBI36
NG_008481.4:g.152836_152856dup , LRG_130:g.152836_152856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4816_4836dup	ENSP00000473355.2:p.Pro1612_Ala1613insSerArgLysAlaLysLysPro
ENST00000505350.2:c.*4768_*4788dup	ENSP00000481752.1:n.*4768_*4788dup
ENST00000507379.6:c.4708_4728dup	ENSP00000423224.2:p.Pro1576_Ala1577insSerArgLysAlaLysLysPro
ENST00000509732.6:c.4762_4782dup	ENSP00000426541.2:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
ENST00000512211.7:c.4762_4782dup	ENSP00000423828.3:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
ENST00000257430.9:c.4762_4782dup MANE Select	ENSP00000257430.4:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
ENST00000257430.8:c.4762_4782dup	ENSP00000257430.4:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
ENST00000508376.6:c.4762_4782dup	ENSP00000427089.2:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
ENST00000508624.5:c.*4084_*4104dup	ENSP00000424265.1:n.*4084_*4104dup
ENST00000520401.1:c.230+11384_230+11404dup
NM_000038.5:c.4762_4782dup	NP_000029.2:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001127510.2:c.4762_4782dup	NP_001120982.1:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001127511.2:c.4708_4728dup	NP_001120983.2:p.Pro1576_Ala1577insSerArgLysAlaLysLysPro
NM_001354895.1:c.4762_4782dup	NP_001341824.1:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001354896.1:c.4816_4836dup	NP_001341825.1:p.Pro1612_Ala1613insSerArgLysAlaLysLysPro
NM_001354897.1:c.4792_4812dup	NP_001341826.1:p.Pro1604_Ala1605insSerArgLysAlaLysLysPro
NM_001354898.1:c.4687_4707dup	NP_001341827.1:p.Pro1569_Ala1570insSerArgLysAlaLysLysPro
NM_001354899.1:c.4678_4698dup	NP_001341828.1:p.Pro1566_Ala1567insSerArgLysAlaLysLysPro
NM_001354900.1:c.4639_4659dup	NP_001341829.1:p.Pro1553_Ala1554insSerArgLysAlaLysLysPro
NM_001354901.1:c.4585_4605dup	NP_001341830.1:p.Pro1535_Ala1536insSerArgLysAlaLysLysPro
NM_001354902.1:c.4489_4509dup	NP_001341831.1:p.Pro1503_Ala1504insSerArgLysAlaLysLysPro
NM_001354903.1:c.4459_4479dup	NP_001341832.1:p.Pro1493_Ala1494insSerArgLysAlaLysLysPro
NM_001354904.1:c.4384_4404dup	NP_001341833.1:p.Pro1468_Ala1469insSerArgLysAlaLysLysPro
NM_001354905.1:c.4282_4302dup	NP_001341834.1:p.Pro1434_Ala1435insSerArgLysAlaLysLysPro
NM_001354906.1:c.3913_3933dup	NP_001341835.1:p.Pro1311_Ala1312insSerArgLysAlaLysLysPro
NM_000038.6:c.4762_4782dup MANE Select	NP_000029.2:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001127510.3:c.4762_4782dup	NP_001120982.1:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001127511.3:c.4708_4728dup	NP_001120983.2:p.Pro1576_Ala1577insSerArgLysAlaLysLysPro
NM_001354895.2:c.4762_4782dup	NP_001341824.1:p.Pro1594_Ala1595insSerArgLysAlaLysLysPro
NM_001354896.2:c.4816_4836dup	NP_001341825.1:p.Pro1612_Ala1613insSerArgLysAlaLysLysPro
NM_001354897.2:c.4792_4812dup	NP_001341826.1:p.Pro1604_Ala1605insSerArgLysAlaLysLysPro
NM_001354898.2:c.4687_4707dup	NP_001341827.1:p.Pro1569_Ala1570insSerArgLysAlaLysLysPro
NM_001354899.2:c.4678_4698dup	NP_001341828.1:p.Pro1566_Ala1567insSerArgLysAlaLysLysPro
NM_001354900.2:c.4639_4659dup	NP_001341829.1:p.Pro1553_Ala1554insSerArgLysAlaLysLysPro
NM_001354901.2:c.4585_4605dup	NP_001341830.1:p.Pro1535_Ala1536insSerArgLysAlaLysLysPro
NM_001354902.2:c.4489_4509dup	NP_001341831.1:p.Pro1503_Ala1504insSerArgLysAlaLysLysPro
NM_001354903.2:c.4459_4479dup	NP_001341832.1:p.Pro1493_Ala1494insSerArgLysAlaLysLysPro
NM_001354904.2:c.4384_4404dup	NP_001341833.1:p.Pro1468_Ala1469insSerArgLysAlaLysLysPro
NM_001354905.2:c.4282_4302dup	NP_001341834.1:p.Pro1434_Ala1435insSerArgLysAlaLysLysPro
NM_001354906.2:c.3913_3933dup	NP_001341835.1:p.Pro1311_Ala1312insSerArgLysAlaLysLysPro