Canonical Allele Identifier: CA2663674356

Gene: ATG16L1 SCARNA5

Linked Data

• gnomAD v4: 2-233275952-T-TGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275953_233275955dup , CM000664.2:g.233275953_233275955dup	GRCh38
NC_000002.11:g.234184599_234184601dup , CM000664.1:g.234184599_234184601dup	GRCh37
NC_000002.10:g.233849338_233849340dup	NCBI36
NG_023038.1:g.29383_29385dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+1175_954+1177dup (ATG16L1) MANE Select	ENSP00000375872.4:n.954+1175_954+1177dup
ENST00000347464.9:c.465+1175_465+1177dup (ATG16L1)	ENSP00000318259.6:n.465+1175_465+1177dup
ENST00000373525.9:c.522+1175_522+1177dup (ATG16L1)	ENSP00000362625.5:n.522+1175_522+1177dup
ENST00000392017.8:c.954+1175_954+1177dup (ATG16L1)	ENSP00000375872.4:n.954+1175_954+1177dup
ENST00000392018.1:c.1005+1175_1005+1177dup (ATG16L1)	ENSP00000375873.1:n.1005+1175_1005+1177dup
ENST00000392020.8:c.897+1175_897+1177dup (ATG16L1)	ENSP00000375875.4:n.897+1175_897+1177dup
ENST00000392021.7:c.*835+1175_*835+1177dup (ATG16L1)	ENSP00000375876.3:n.*835+1175_*835+1177dup
ENST00000419681.5:c.465+1175_465+1177dup (ATG16L1)	ENSP00000398773.1:n.465+1175_465+1177dup
ENST00000464645.5:n.89+486_89+488dup (ATG16L1)
ENST00000474148.5:n.1749+1175_1749+1177dup (ATG16L1)
ENST00000479942.5:n.1100+1175_1100+1177dup (ATG16L1)
ENST00000492298.5:n.475+1175_475+1177dup (ATG16L1)
ENST00000498620.5:n.461+1175_461+1177dup (ATG16L1)
NM_001190266.1:c.702+1175_702+1177dup (ATG16L1)	NP_001177195.1:n.702+1175_702+1177dup
NM_001190267.1:c.606+1175_606+1177dup (ATG16L1)	NP_001177196.1:n.606+1175_606+1177dup
NM_017974.3:c.897+1175_897+1177dup (ATG16L1)	NP_060444.3:n.897+1175_897+1177dup
NM_030803.6:c.954+1175_954+1177dup (ATG16L1)	NP_110430.5:n.954+1175_954+1177dup
NM_198890.2:c.465+1175_465+1177dup (ATG16L1)	NP_942593.2:n.465+1175_465+1177dup
NR_003008.2:n.228_230dup (SCARNA5)
XM_005246082.1:c.1005+1175_1005+1177dup (ATG16L1)	XP_005246139.1:n.1005+1175_1005+1177dup
XM_005246084.1:c.573+1175_573+1177dup (ATG16L1)	XP_005246141.1:n.573+1175_573+1177dup
XM_005246086.1:c.522+1175_522+1177dup (ATG16L1)	XP_005246143.1:n.522+1175_522+1177dup
XM_006712608.1:c.753+1175_753+1177dup (ATG16L1)	XP_006712671.1:n.753+1175_753+1177dup
XR_241242.1:n.1199+1175_1199+1177dup (ATG16L1)
NM_001363742.1:c.1005+1175_1005+1177dup (ATG16L1)	NP_001350671.1:n.1005+1175_1005+1177dup
XM_005246084.2:c.573+1175_573+1177dup (ATG16L1)	XP_005246141.1:n.573+1175_573+1177dup
XM_005246086.2:c.522+1175_522+1177dup (ATG16L1)	XP_005246143.1:n.522+1175_522+1177dup
XM_006712608.3:c.753+1175_753+1177dup (ATG16L1)	XP_006712671.1:n.753+1175_753+1177dup
XR_001738801.2:n.1135+1175_1135+1177dup (ATG16L1)
XR_241242.3:n.1186+1175_1186+1177dup (ATG16L1)
NM_030803.7:c.954+1175_954+1177dup (ATG16L1) MANE Select	NP_110430.5:n.954+1175_954+1177dup
NM_001190266.2:c.702+1175_702+1177dup (ATG16L1)	NP_001177195.1:n.702+1175_702+1177dup
NM_001190267.2:c.606+1175_606+1177dup (ATG16L1)	NP_001177196.1:n.606+1175_606+1177dup
NM_001363742.2:c.1005+1175_1005+1177dup (ATG16L1)	NP_001350671.1:n.1005+1175_1005+1177dup
NM_017974.4:c.897+1175_897+1177dup (ATG16L1)	NP_060444.3:n.897+1175_897+1177dup
NM_198890.3:c.465+1175_465+1177dup (ATG16L1)	NP_942593.2:n.465+1175_465+1177dup