Canonical Allele Identifier: CA2569397934
Gene: ATG16L1 HGNC NCBI
SCARNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275895_233275897del , CM000664.2:g.233275895_233275897del GRCh38
NC_000002.11:g.234184541_234184543del , CM000664.1:g.234184541_234184543del GRCh37
NC_000002.10:g.233849280_233849282del NCBI36
NG_023038.1:g.29325_29327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+1117_954+1119del (ATG16L1) MANE Select ENSP00000375872.4:n.954+1117_954+1119del
ENST00000347464.9:c.465+1117_465+1119del (ATG16L1) ENSP00000318259.6:n.465+1117_465+1119del
ENST00000373525.9:c.522+1117_522+1119del (ATG16L1) ENSP00000362625.5:n.522+1117_522+1119del
ENST00000392017.8:c.954+1117_954+1119del (ATG16L1) ENSP00000375872.4:n.954+1117_954+1119del
ENST00000392018.1:c.1005+1117_1005+1119del (ATG16L1) ENSP00000375873.1:n.1005+1117_1005+1119del
ENST00000392020.8:c.897+1117_897+1119del (ATG16L1) ENSP00000375875.4:n.897+1117_897+1119del
ENST00000392021.7:c.*835+1117_*835+1119del (ATG16L1) ENSP00000375876.3:n.*835+1117_*835+1119del
ENST00000419681.5:c.465+1117_465+1119del (ATG16L1) ENSP00000398773.1:n.465+1117_465+1119del
ENST00000464645.5:n.89+428_89+430del (ATG16L1)
ENST00000474148.5:n.1749+1117_1749+1119del (ATG16L1)
ENST00000479942.5:n.1100+1117_1100+1119del (ATG16L1)
ENST00000492298.5:n.475+1117_475+1119del (ATG16L1)
ENST00000498620.5:n.461+1117_461+1119del (ATG16L1)
NM_001190266.1:c.702+1117_702+1119del (ATG16L1) NP_001177195.1:n.702+1117_702+1119del
NM_001190267.1:c.606+1117_606+1119del (ATG16L1) NP_001177196.1:n.606+1117_606+1119del
NM_017974.3:c.897+1117_897+1119del (ATG16L1) NP_060444.3:n.897+1117_897+1119del
NM_030803.6:c.954+1117_954+1119del (ATG16L1) NP_110430.5:n.954+1117_954+1119del
NM_198890.2:c.465+1117_465+1119del (ATG16L1) NP_942593.2:n.465+1117_465+1119del
NR_003008.2:n.170_172del (SCARNA5)
XM_005246082.1:c.1005+1117_1005+1119del (ATG16L1) XP_005246139.1:n.1005+1117_1005+1119del
XM_005246084.1:c.573+1117_573+1119del (ATG16L1) XP_005246141.1:n.573+1117_573+1119del
XM_005246086.1:c.522+1117_522+1119del (ATG16L1) XP_005246143.1:n.522+1117_522+1119del
XM_006712608.1:c.753+1117_753+1119del (ATG16L1) XP_006712671.1:n.753+1117_753+1119del
XR_241242.1:n.1199+1117_1199+1119del (ATG16L1)
NM_001363742.1:c.1005+1117_1005+1119del (ATG16L1) NP_001350671.1:n.1005+1117_1005+1119del
XM_005246084.2:c.573+1117_573+1119del (ATG16L1) XP_005246141.1:n.573+1117_573+1119del
XM_005246086.2:c.522+1117_522+1119del (ATG16L1) XP_005246143.1:n.522+1117_522+1119del
XM_006712608.3:c.753+1117_753+1119del (ATG16L1) XP_006712671.1:n.753+1117_753+1119del
XR_001738801.2:n.1135+1117_1135+1119del (ATG16L1)
XR_241242.3:n.1186+1117_1186+1119del (ATG16L1)
NM_030803.7:c.954+1117_954+1119del (ATG16L1) MANE Select NP_110430.5:n.954+1117_954+1119del
NM_001190266.2:c.702+1117_702+1119del (ATG16L1) NP_001177195.1:n.702+1117_702+1119del
NM_001190267.2:c.606+1117_606+1119del (ATG16L1) NP_001177196.1:n.606+1117_606+1119del
NM_001363742.2:c.1005+1117_1005+1119del (ATG16L1) NP_001350671.1:n.1005+1117_1005+1119del
NM_017974.4:c.897+1117_897+1119del (ATG16L1) NP_060444.3:n.897+1117_897+1119del
NM_198890.3:c.465+1117_465+1119del (ATG16L1) NP_942593.2:n.465+1117_465+1119del