Canonical Allele Identifier: CA1335662838
Gene: ATG16L1 HGNC NCBI
SCARNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275957_233275958delinsGT , CM000664.2:g.233275957_233275958delinsGT GRCh38
NC_000002.11:g.234184603_234184604delinsGT , CM000664.1:g.234184603_234184604delinsGT GRCh37
NC_000002.10:g.233849342_233849343delinsGT NCBI36
NG_023038.1:g.29387_29388delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+1179_954+1180delinsGT (ATG16L1) MANE Select ENSP00000375872.4:n.954+1179_954+1180delinsGT
ENST00000347464.9:c.465+1179_465+1180delinsGT (ATG16L1) ENSP00000318259.6:n.465+1179_465+1180delinsGT
ENST00000373525.9:c.522+1179_522+1180delinsGT (ATG16L1) ENSP00000362625.5:n.522+1179_522+1180delinsGT
ENST00000392017.8:c.954+1179_954+1180delinsGT (ATG16L1) ENSP00000375872.4:n.954+1179_954+1180delinsGT
ENST00000392018.1:c.1005+1179_1005+1180delinsGT (ATG16L1) ENSP00000375873.1:n.1005+1179_1005+1180delinsGT
ENST00000392020.8:c.897+1179_897+1180delinsGT (ATG16L1) ENSP00000375875.4:n.897+1179_897+1180delinsGT
ENST00000392021.7:c.*835+1179_*835+1180delinsGT (ATG16L1) ENSP00000375876.3:n.*835+1179_*835+1180delinsGT
ENST00000419681.5:c.465+1179_465+1180delinsGT (ATG16L1) ENSP00000398773.1:n.465+1179_465+1180delinsGT
ENST00000464645.5:n.89+490_89+491delinsGT (ATG16L1)
ENST00000474148.5:n.1749+1179_1749+1180delinsGT (ATG16L1)
ENST00000479942.5:n.1100+1179_1100+1180delinsGT (ATG16L1)
ENST00000492298.5:n.475+1179_475+1180delinsGT (ATG16L1)
ENST00000498620.5:n.461+1179_461+1180delinsGT (ATG16L1)
NM_001190266.1:c.702+1179_702+1180delinsGT (ATG16L1) NP_001177195.1:n.702+1179_702+1180delinsGT
NM_001190267.1:c.606+1179_606+1180delinsGT (ATG16L1) NP_001177196.1:n.606+1179_606+1180delinsGT
NM_017974.3:c.897+1179_897+1180delinsGT (ATG16L1) NP_060444.3:n.897+1179_897+1180delinsGT
NM_030803.6:c.954+1179_954+1180delinsGT (ATG16L1) NP_110430.5:n.954+1179_954+1180delinsGT
NM_198890.2:c.465+1179_465+1180delinsGT (ATG16L1) NP_942593.2:n.465+1179_465+1180delinsGT
NR_003008.2:n.232_233delinsGT (SCARNA5)
XM_005246082.1:c.1005+1179_1005+1180delinsGT (ATG16L1) XP_005246139.1:n.1005+1179_1005+1180delinsGT
XM_005246084.1:c.573+1179_573+1180delinsGT (ATG16L1) XP_005246141.1:n.573+1179_573+1180delinsGT
XM_005246086.1:c.522+1179_522+1180delinsGT (ATG16L1) XP_005246143.1:n.522+1179_522+1180delinsGT
XM_006712608.1:c.753+1179_753+1180delinsGT (ATG16L1) XP_006712671.1:n.753+1179_753+1180delinsGT
XR_241242.1:n.1199+1179_1199+1180delinsGT (ATG16L1)
NM_001363742.1:c.1005+1179_1005+1180delinsGT (ATG16L1) NP_001350671.1:n.1005+1179_1005+1180delinsGT
XM_005246084.2:c.573+1179_573+1180delinsGT (ATG16L1) XP_005246141.1:n.573+1179_573+1180delinsGT
XM_005246086.2:c.522+1179_522+1180delinsGT (ATG16L1) XP_005246143.1:n.522+1179_522+1180delinsGT
XM_006712608.3:c.753+1179_753+1180delinsGT (ATG16L1) XP_006712671.1:n.753+1179_753+1180delinsGT
XR_001738801.2:n.1135+1179_1135+1180delinsGT (ATG16L1)
XR_241242.3:n.1186+1179_1186+1180delinsGT (ATG16L1)
NM_030803.7:c.954+1179_954+1180delinsGT (ATG16L1) MANE Select NP_110430.5:n.954+1179_954+1180delinsGT
NM_001190266.2:c.702+1179_702+1180delinsGT (ATG16L1) NP_001177195.1:n.702+1179_702+1180delinsGT
NM_001190267.2:c.606+1179_606+1180delinsGT (ATG16L1) NP_001177196.1:n.606+1179_606+1180delinsGT
NM_001363742.2:c.1005+1179_1005+1180delinsGT (ATG16L1) NP_001350671.1:n.1005+1179_1005+1180delinsGT
NM_017974.4:c.897+1179_897+1180delinsGT (ATG16L1) NP_060444.3:n.897+1179_897+1180delinsGT
NM_198890.3:c.465+1179_465+1180delinsGT (ATG16L1) NP_942593.2:n.465+1179_465+1180delinsGT