Canonical Allele Identifier: CA1335666783

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274974_233274975delinsAT , CM000664.2:g.233274974_233274975delinsAT	GRCh38
NC_000002.11:g.234183620_234183621delinsAT , CM000664.1:g.234183620_234183621delinsAT	GRCh37
NC_000002.10:g.233848359_233848360delinsAT	NCBI36
NG_023038.1:g.28404_28405delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+196_954+197delinsAT MANE Select	ENSP00000375872.4:n.954+196_954+197delinsAT
ENST00000347464.9:c.465+196_465+197delinsAT	ENSP00000318259.6:n.465+196_465+197delinsAT
ENST00000373525.9:c.522+196_522+197delinsAT	ENSP00000362625.5:n.522+196_522+197delinsAT
ENST00000392017.8:c.954+196_954+197delinsAT	ENSP00000375872.4:n.954+196_954+197delinsAT
ENST00000392018.1:c.1005+196_1005+197delinsAT	ENSP00000375873.1:n.1005+196_1005+197delinsAT
ENST00000392020.8:c.897+196_897+197delinsAT	ENSP00000375875.4:n.897+196_897+197delinsAT
ENST00000392021.7:c.*835+196_*835+197delinsAT	ENSP00000375876.3:n.*835+196_*835+197delinsAT
ENST00000419681.5:c.465+196_465+197delinsAT	ENSP00000398773.1:n.465+196_465+197delinsAT
ENST00000474148.5:n.1749+196_1749+197delinsAT
ENST00000479942.5:n.1100+196_1100+197delinsAT
ENST00000492298.5:n.475+196_475+197delinsAT
ENST00000498620.5:n.461+196_461+197delinsAT
NM_001190266.1:c.702+196_702+197delinsAT	NP_001177195.1:n.702+196_702+197delinsAT
NM_001190267.1:c.606+196_606+197delinsAT	NP_001177196.1:n.606+196_606+197delinsAT
NM_017974.3:c.897+196_897+197delinsAT	NP_060444.3:n.897+196_897+197delinsAT
NM_030803.6:c.954+196_954+197delinsAT	NP_110430.5:n.954+196_954+197delinsAT
NM_198890.2:c.465+196_465+197delinsAT	NP_942593.2:n.465+196_465+197delinsAT
XM_005246082.1:c.1005+196_1005+197delinsAT	XP_005246139.1:n.1005+196_1005+197delinsAT
XM_005246084.1:c.573+196_573+197delinsAT	XP_005246141.1:n.573+196_573+197delinsAT
XM_005246086.1:c.522+196_522+197delinsAT	XP_005246143.1:n.522+196_522+197delinsAT
XM_006712608.1:c.753+196_753+197delinsAT	XP_006712671.1:n.753+196_753+197delinsAT
XR_241242.1:n.1199+196_1199+197delinsAT
NM_001363742.1:c.1005+196_1005+197delinsAT	NP_001350671.1:n.1005+196_1005+197delinsAT
XM_005246084.2:c.573+196_573+197delinsAT	XP_005246141.1:n.573+196_573+197delinsAT
XM_005246086.2:c.522+196_522+197delinsAT	XP_005246143.1:n.522+196_522+197delinsAT
XM_006712608.3:c.753+196_753+197delinsAT	XP_006712671.1:n.753+196_753+197delinsAT
XR_001738801.2:n.1135+196_1135+197delinsAT
XR_241242.3:n.1186+196_1186+197delinsAT
NM_030803.7:c.954+196_954+197delinsAT MANE Select	NP_110430.5:n.954+196_954+197delinsAT
NM_001190266.2:c.702+196_702+197delinsAT	NP_001177195.1:n.702+196_702+197delinsAT
NM_001190267.2:c.606+196_606+197delinsAT	NP_001177196.1:n.606+196_606+197delinsAT
NM_001363742.2:c.1005+196_1005+197delinsAT	NP_001350671.1:n.1005+196_1005+197delinsAT
NM_017974.4:c.897+196_897+197delinsAT	NP_060444.3:n.897+196_897+197delinsAT
NM_198890.3:c.465+196_465+197delinsAT	NP_942593.2:n.465+196_465+197delinsAT