Canonical Allele Identifier: CA2754678553
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274869_233274870insAATGACAGCTTTACGCATGATCAGGGAC , CM000664.2:g.233274869_233274870insAATGACAGCTTTACGCATGATCAGGGAC GRCh38
NC_000002.11:g.234183515_234183516insAATGACAGCTTTACGCATGATCAGGGAC , CM000664.1:g.234183515_234183516insAATGACAGCTTTACGCATGATCAGGGAC GRCh37
NC_000002.10:g.233848254_233848255insAATGACAGCTTTACGCATGATCAGGGAC NCBI36
NG_023038.1:g.28299_28300insAATGACAGCTTTACGCATGATCAGGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC MANE Select ENSP00000375872.4:n.954+91_954+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000347464.9:c.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000318259.6:n.465+91_465+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000373525.9:c.522+91_522+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000362625.5:n.522+91_522+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000392017.8:c.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000375872.4:n.954+91_954+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000392018.1:c.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000375873.1:n.1005+91_1005+92insAATGACAGCTTTACGCATGATCA...
ENST00000392020.8:c.897+91_897+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000375875.4:n.897+91_897+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000392021.7:c.*835+91_*835+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000375876.3:n.*835+91_*835+92insAATGACAGCTTTACGCATGATCA...
ENST00000419681.5:c.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC ENSP00000398773.1:n.465+91_465+92insAATGACAGCTTTACGCATGATCAGG...
ENST00000474148.5:n.1749+91_1749+92insAATGACAGCTTTACGCATGATCAGGGAC
ENST00000479942.5:n.1100+91_1100+92insAATGACAGCTTTACGCATGATCAGGGAC
ENST00000492298.5:n.475+91_475+92insAATGACAGCTTTACGCATGATCAGGGAC
ENST00000498620.5:n.461+91_461+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_001190266.1:c.702+91_702+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001177195.1:n.702+91_702+92insAATGACAGCTTTACGCATGATCAGGGAC...
NM_001190267.1:c.606+91_606+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001177196.1:n.606+91_606+92insAATGACAGCTTTACGCATGATCAGGGAC...
NM_017974.3:c.897+91_897+92insAATGACAGCTTTACGCATGATCAGGGAC NP_060444.3:n.897+91_897+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_030803.6:c.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC NP_110430.5:n.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_198890.2:c.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC NP_942593.2:n.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC
XM_005246082.1:c.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGGAC XP_005246139.1:n.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGG...
XM_005246084.1:c.573+91_573+92insAATGACAGCTTTACGCATGATCAGGGAC XP_005246141.1:n.573+91_573+92insAATGACAGCTTTACGCATGATCAGGGAC...
XM_005246086.1:c.522+91_522+92insAATGACAGCTTTACGCATGATCAGGGAC XP_005246143.1:n.522+91_522+92insAATGACAGCTTTACGCATGATCAGGGAC...
XM_006712608.1:c.753+91_753+92insAATGACAGCTTTACGCATGATCAGGGAC XP_006712671.1:n.753+91_753+92insAATGACAGCTTTACGCATGATCAGGGAC...
XR_241242.1:n.1199+91_1199+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_001363742.1:c.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001350671.1:n.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGG...
XM_005246084.2:c.573+91_573+92insAATGACAGCTTTACGCATGATCAGGGAC XP_005246141.1:n.573+91_573+92insAATGACAGCTTTACGCATGATCAGGGAC...
XM_005246086.2:c.522+91_522+92insAATGACAGCTTTACGCATGATCAGGGAC XP_005246143.1:n.522+91_522+92insAATGACAGCTTTACGCATGATCAGGGAC...
XM_006712608.3:c.753+91_753+92insAATGACAGCTTTACGCATGATCAGGGAC XP_006712671.1:n.753+91_753+92insAATGACAGCTTTACGCATGATCAGGGAC...
XR_001738801.2:n.1135+91_1135+92insAATGACAGCTTTACGCATGATCAGGGAC
XR_241242.3:n.1186+91_1186+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_030803.7:c.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC MANE Select NP_110430.5:n.954+91_954+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_001190266.2:c.702+91_702+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001177195.1:n.702+91_702+92insAATGACAGCTTTACGCATGATCAGGGAC...
NM_001190267.2:c.606+91_606+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001177196.1:n.606+91_606+92insAATGACAGCTTTACGCATGATCAGGGAC...
NM_001363742.2:c.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGGAC NP_001350671.1:n.1005+91_1005+92insAATGACAGCTTTACGCATGATCAGGG...
NM_017974.4:c.897+91_897+92insAATGACAGCTTTACGCATGATCAGGGAC NP_060444.3:n.897+91_897+92insAATGACAGCTTTACGCATGATCAGGGAC
NM_198890.3:c.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC NP_942593.2:n.465+91_465+92insAATGACAGCTTTACGCATGATCAGGGAC