Canonical Allele Identifier: CA2663674304

Gene: ATG16L1 SCARNA5

Linked Data

• gnomAD v4: 2-233275853-A-ACCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275853_233275854insCCCCCCCCCCCCCCCCCCCCC , CM000664.2:g.233275853_233275854insCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000002.11:g.234184499_234184500insCCCCCCCCCCCCCCCCCCCCC , CM000664.1:g.234184499_234184500insCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000002.10:g.233849238_233849239insCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_023038.1:g.29283_29284insCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1) MANE Select	ENSP00000375872.4:n.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000347464.9:c.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000318259.6:n.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000373525.9:c.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000362625.5:n.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000392017.8:c.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000375872.4:n.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000392018.1:c.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000375873.1:n.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCC...
ENST00000392020.8:c.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000375875.4:n.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000392021.7:c.*835+1075_*835+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000375876.3:n.*835+1075_*835+1076insCCCCCCCCCCCCCCCCCCC...
ENST00000419681.5:c.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	ENSP00000398773.1:n.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC...
ENST00000464645.5:n.89+386_89+387insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
ENST00000474148.5:n.1749+1075_1749+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
ENST00000479942.5:n.1100+1075_1100+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
ENST00000492298.5:n.475+1075_475+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
ENST00000498620.5:n.461+1075_461+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
NM_001190266.1:c.702+1075_702+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001177195.1:n.702+1075_702+1076insCCCCCCCCCCCCCCCCCCCCC
NM_001190267.1:c.606+1075_606+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001177196.1:n.606+1075_606+1076insCCCCCCCCCCCCCCCCCCCCC
NM_017974.3:c.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_060444.3:n.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC
NM_030803.6:c.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_110430.5:n.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC
NM_198890.2:c.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_942593.2:n.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC
NR_003008.2:n.128_129insCCCCCCCCCCCCCCCCCCCCC (SCARNA5)
XM_005246082.1:c.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_005246139.1:n.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC
XM_005246084.1:c.573+1075_573+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_005246141.1:n.573+1075_573+1076insCCCCCCCCCCCCCCCCCCCCC
XM_005246086.1:c.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_005246143.1:n.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC
XM_006712608.1:c.753+1075_753+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_006712671.1:n.753+1075_753+1076insCCCCCCCCCCCCCCCCCCCCC
XR_241242.1:n.1199+1075_1199+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
NM_001363742.1:c.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001350671.1:n.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC
XM_005246084.2:c.573+1075_573+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_005246141.1:n.573+1075_573+1076insCCCCCCCCCCCCCCCCCCCCC
XM_005246086.2:c.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_005246143.1:n.522+1075_522+1076insCCCCCCCCCCCCCCCCCCCCC
XM_006712608.3:c.753+1075_753+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	XP_006712671.1:n.753+1075_753+1076insCCCCCCCCCCCCCCCCCCCCC
XR_001738801.2:n.1135+1075_1135+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
XR_241242.3:n.1186+1075_1186+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)
NM_030803.7:c.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1) MANE Select	NP_110430.5:n.954+1075_954+1076insCCCCCCCCCCCCCCCCCCCCC
NM_001190266.2:c.702+1075_702+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001177195.1:n.702+1075_702+1076insCCCCCCCCCCCCCCCCCCCCC
NM_001190267.2:c.606+1075_606+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001177196.1:n.606+1075_606+1076insCCCCCCCCCCCCCCCCCCCCC
NM_001363742.2:c.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_001350671.1:n.1005+1075_1005+1076insCCCCCCCCCCCCCCCCCCCCC
NM_017974.4:c.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_060444.3:n.897+1075_897+1076insCCCCCCCCCCCCCCCCCCCCC
NM_198890.3:c.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC (ATG16L1)	NP_942593.2:n.465+1075_465+1076insCCCCCCCCCCCCCCCCCCCCC