Canonical Allele Identifier: CA1335666737

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274858_233274859delinsTG , CM000664.2:g.233274858_233274859delinsTG	GRCh38
NC_000002.11:g.234183504_234183505delinsTG , CM000664.1:g.234183504_234183505delinsTG	GRCh37
NC_000002.10:g.233848243_233848244delinsTG	NCBI36
NG_023038.1:g.28288_28289delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+80_954+81delinsTG MANE Select	ENSP00000375872.4:n.954+80_954+81delinsTG
ENST00000347464.9:c.465+80_465+81delinsTG	ENSP00000318259.6:n.465+80_465+81delinsTG
ENST00000373525.9:c.522+80_522+81delinsTG	ENSP00000362625.5:n.522+80_522+81delinsTG
ENST00000392017.8:c.954+80_954+81delinsTG	ENSP00000375872.4:n.954+80_954+81delinsTG
ENST00000392018.1:c.1005+80_1005+81delinsTG	ENSP00000375873.1:n.1005+80_1005+81delinsTG
ENST00000392020.8:c.897+80_897+81delinsTG	ENSP00000375875.4:n.897+80_897+81delinsTG
ENST00000392021.7:c.*835+80_*835+81delinsTG	ENSP00000375876.3:n.*835+80_*835+81delinsTG
ENST00000419681.5:c.465+80_465+81delinsTG	ENSP00000398773.1:n.465+80_465+81delinsTG
ENST00000474148.5:n.1749+80_1749+81delinsTG
ENST00000479942.5:n.1100+80_1100+81delinsTG
ENST00000492298.5:n.475+80_475+81delinsTG
ENST00000498620.5:n.461+80_461+81delinsTG
NM_001190266.1:c.702+80_702+81delinsTG	NP_001177195.1:n.702+80_702+81delinsTG
NM_001190267.1:c.606+80_606+81delinsTG	NP_001177196.1:n.606+80_606+81delinsTG
NM_017974.3:c.897+80_897+81delinsTG	NP_060444.3:n.897+80_897+81delinsTG
NM_030803.6:c.954+80_954+81delinsTG	NP_110430.5:n.954+80_954+81delinsTG
NM_198890.2:c.465+80_465+81delinsTG	NP_942593.2:n.465+80_465+81delinsTG
XM_005246082.1:c.1005+80_1005+81delinsTG	XP_005246139.1:n.1005+80_1005+81delinsTG
XM_005246084.1:c.573+80_573+81delinsTG	XP_005246141.1:n.573+80_573+81delinsTG
XM_005246086.1:c.522+80_522+81delinsTG	XP_005246143.1:n.522+80_522+81delinsTG
XM_006712608.1:c.753+80_753+81delinsTG	XP_006712671.1:n.753+80_753+81delinsTG
XR_241242.1:n.1199+80_1199+81delinsTG
NM_001363742.1:c.1005+80_1005+81delinsTG	NP_001350671.1:n.1005+80_1005+81delinsTG
XM_005246084.2:c.573+80_573+81delinsTG	XP_005246141.1:n.573+80_573+81delinsTG
XM_005246086.2:c.522+80_522+81delinsTG	XP_005246143.1:n.522+80_522+81delinsTG
XM_006712608.3:c.753+80_753+81delinsTG	XP_006712671.1:n.753+80_753+81delinsTG
XR_001738801.2:n.1135+80_1135+81delinsTG
XR_241242.3:n.1186+80_1186+81delinsTG
NM_030803.7:c.954+80_954+81delinsTG MANE Select	NP_110430.5:n.954+80_954+81delinsTG
NM_001190266.2:c.702+80_702+81delinsTG	NP_001177195.1:n.702+80_702+81delinsTG
NM_001190267.2:c.606+80_606+81delinsTG	NP_001177196.1:n.606+80_606+81delinsTG
NM_001363742.2:c.1005+80_1005+81delinsTG	NP_001350671.1:n.1005+80_1005+81delinsTG
NM_017974.4:c.897+80_897+81delinsTG	NP_060444.3:n.897+80_897+81delinsTG
NM_198890.3:c.465+80_465+81delinsTG	NP_942593.2:n.465+80_465+81delinsTG