Canonical Allele Identifier: CA2499217478
Community Standard Title: NM_000038.6(APC):c.3746_3747delinsAA (p.Cys1249Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839340_112839341delinsAA , CM000667.2:g.112839340_112839341delinsAA GRCh38
NC_000005.9:g.112175037_112175038delinsAA , CM000667.1:g.112175037_112175038delinsAA GRCh37
NC_000005.8:g.112202936_112202937delinsAA NCBI36
NG_008481.4:g.151820_151821delinsAA , LRG_130:g.151820_151821delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.3746_3747delinsAA MANE Select NP_000029.2:p.Cys1249Ter
ENST00000257430.9:c.3746_3747delinsAA MANE Select ENSP00000257430.4:p.Cys1249Ter
NM_000038.5:c.3746_3747delinsAA NP_000029.2:p.Cys1249Ter
NM_001127510.2:c.3746_3747delinsAA NP_001120982.1:p.Cys1249Ter
NM_001127510.3:c.3746_3747delinsAA NP_001120982.1:p.Cys1249Ter
NM_001127511.2:c.3692_3693delinsAA NP_001120983.2:p.Cys1231Ter
NM_001127511.3:c.3692_3693delinsAA NP_001120983.2:p.Cys1231Ter
NM_001354895.1:c.3746_3747delinsAA NP_001341824.1:p.Cys1249Ter
NM_001354895.2:c.3746_3747delinsAA NP_001341824.1:p.Cys1249Ter
NM_001354896.1:c.3800_3801delinsAA NP_001341825.1:p.Cys1267Ter
NM_001354896.2:c.3800_3801delinsAA NP_001341825.1:p.Cys1267Ter
NM_001354897.1:c.3776_3777delinsAA NP_001341826.1:p.Cys1259Ter
NM_001354897.2:c.3776_3777delinsAA NP_001341826.1:p.Cys1259Ter
NM_001354898.1:c.3671_3672delinsAA NP_001341827.1:p.Cys1224Ter
NM_001354898.2:c.3671_3672delinsAA NP_001341827.1:p.Cys1224Ter
NM_001354899.1:c.3662_3663delinsAA NP_001341828.1:p.Cys1221Ter
NM_001354899.2:c.3662_3663delinsAA NP_001341828.1:p.Cys1221Ter
NM_001354900.1:c.3623_3624delinsAA NP_001341829.1:p.Cys1208Ter
NM_001354900.2:c.3623_3624delinsAA NP_001341829.1:p.Cys1208Ter
NM_001354901.1:c.3569_3570delinsAA NP_001341830.1:p.Cys1190Ter
NM_001354901.2:c.3569_3570delinsAA NP_001341830.1:p.Cys1190Ter
NM_001354902.1:c.3473_3474delinsAA NP_001341831.1:p.Cys1158Ter
NM_001354902.2:c.3473_3474delinsAA NP_001341831.1:p.Cys1158Ter
NM_001354903.1:c.3443_3444delinsAA NP_001341832.1:p.Cys1148Ter
NM_001354903.2:c.3443_3444delinsAA NP_001341832.1:p.Cys1148Ter
NM_001354904.1:c.3368_3369delinsAA NP_001341833.1:p.Cys1123Ter
NM_001354904.2:c.3368_3369delinsAA NP_001341833.1:p.Cys1123Ter
NM_001354905.1:c.3266_3267delinsAA NP_001341834.1:p.Cys1089Ter
NM_001354905.2:c.3266_3267delinsAA NP_001341834.1:p.Cys1089Ter
NM_001354906.1:c.2897_2898delinsAA NP_001341835.1:p.Cys966Ter
NM_001354906.2:c.2897_2898delinsAA NP_001341835.1:p.Cys966Ter
ENST00000257430.8:c.3746_3747delinsAA ENSP00000257430.4:p.Cys1249Ter
ENST00000502371.2:c.2099_2100delinsAA
ENST00000502371.3:c.3411_3412delinsAA ENSP00000484935.2:n.3411_3412delinsAA
ENST00000504915.3:c.3800_3801delinsAA ENSP00000473355.2:p.Cys1267Ter
ENST00000505350.2:c.*3752_*3753delinsAA ENSP00000481752.1:n.*3752_*3753delinsAA
ENST00000507379.6:c.3692_3693delinsAA ENSP00000423224.2:p.Cys1231Ter
ENST00000508376.6:c.3746_3747delinsAA ENSP00000427089.2:p.Cys1249Ter
ENST00000508624.5:c.*3068_*3069delinsAA ENSP00000424265.1:n.*3068_*3069delinsAA
ENST00000509732.6:c.3746_3747delinsAA ENSP00000426541.2:p.Cys1249Ter
ENST00000512211.6:c.3746_3747delinsAA ENSP00000423828.2:p.Cys1249Ter
ENST00000512211.7:c.3746_3747delinsAA ENSP00000423828.3:p.Cys1249Ter
ENST00000520401.1:c.230+10368_230+10369delinsAA