Canonical Allele Identifier: CA2663676129
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275623_233275624del , CM000664.2:g.233275623_233275624del GRCh38
NC_000002.11:g.234184269_234184270del , CM000664.1:g.234184269_234184270del GRCh37
NC_000002.10:g.233849008_233849009del NCBI36
NG_023038.1:g.29053_29054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+845_954+846del MANE Select ENSP00000375872.4:n.954+845_954+846del
ENST00000347464.9:c.465+845_465+846del ENSP00000318259.6:n.465+845_465+846del
ENST00000373525.9:c.522+845_522+846del ENSP00000362625.5:n.522+845_522+846del
ENST00000392017.8:c.954+845_954+846del ENSP00000375872.4:n.954+845_954+846del
ENST00000392018.1:c.1005+845_1005+846del ENSP00000375873.1:n.1005+845_1005+846del
ENST00000392020.8:c.897+845_897+846del ENSP00000375875.4:n.897+845_897+846del
ENST00000392021.7:c.*835+845_*835+846del ENSP00000375876.3:n.*835+845_*835+846del
ENST00000419681.5:c.465+845_465+846del ENSP00000398773.1:n.465+845_465+846del
ENST00000464645.5:n.89+156_89+157del
ENST00000474148.5:n.1749+845_1749+846del
ENST00000479942.5:n.1100+845_1100+846del
ENST00000492298.5:n.475+845_475+846del
ENST00000498620.5:n.461+845_461+846del
NM_001190266.1:c.702+845_702+846del NP_001177195.1:n.702+845_702+846del
NM_001190267.1:c.606+845_606+846del NP_001177196.1:n.606+845_606+846del
NM_017974.3:c.897+845_897+846del NP_060444.3:n.897+845_897+846del
NM_030803.6:c.954+845_954+846del NP_110430.5:n.954+845_954+846del
NM_198890.2:c.465+845_465+846del NP_942593.2:n.465+845_465+846del
XM_005246082.1:c.1005+845_1005+846del XP_005246139.1:n.1005+845_1005+846del
XM_005246084.1:c.573+845_573+846del XP_005246141.1:n.573+845_573+846del
XM_005246086.1:c.522+845_522+846del XP_005246143.1:n.522+845_522+846del
XM_006712608.1:c.753+845_753+846del XP_006712671.1:n.753+845_753+846del
XR_241242.1:n.1199+845_1199+846del
NM_001363742.1:c.1005+845_1005+846del NP_001350671.1:n.1005+845_1005+846del
XM_005246084.2:c.573+845_573+846del XP_005246141.1:n.573+845_573+846del
XM_005246086.2:c.522+845_522+846del XP_005246143.1:n.522+845_522+846del
XM_006712608.3:c.753+845_753+846del XP_006712671.1:n.753+845_753+846del
XR_001738801.2:n.1135+845_1135+846del
XR_241242.3:n.1186+845_1186+846del
NM_030803.7:c.954+845_954+846del MANE Select NP_110430.5:n.954+845_954+846del
NM_001190266.2:c.702+845_702+846del NP_001177195.1:n.702+845_702+846del
NM_001190267.2:c.606+845_606+846del NP_001177196.1:n.606+845_606+846del
NM_001363742.2:c.1005+845_1005+846del NP_001350671.1:n.1005+845_1005+846del
NM_017974.4:c.897+845_897+846del NP_060444.3:n.897+845_897+846del
NM_198890.3:c.465+845_465+846del NP_942593.2:n.465+845_465+846del