Canonical Allele Identifier: CA2754678552

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274869_233274870insAA , CM000664.2:g.233274869_233274870insAA	GRCh38
NC_000002.11:g.234183515_234183516insAA , CM000664.1:g.234183515_234183516insAA	GRCh37
NC_000002.10:g.233848254_233848255insAA	NCBI36
NG_023038.1:g.28299_28300insAA

Transcript Alleles

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