Canonical Allele Identifier: CA2173753

Gene: ATG16L1 SCARNA5

Linked Data

• dbSNP Id: rs775563252
• ExAC: 2:234184477 CAT / C
• gnomAD v2: 2-234184477-CAT-C
• gnomAD v3: 2-233275831-CAT-C
• gnomAD v4: 2-233275831-CAT-C
• MyVariant Identifiers: chr2:g.234184478_234184479del (hg19) ; chr2:g.233275832_233275833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275832_233275833del , CM000664.2:g.233275832_233275833del	GRCh38
NC_000002.11:g.234184478_234184479del , CM000664.1:g.234184478_234184479del	GRCh37
NC_000002.10:g.233849217_233849218del	NCBI36
NG_023038.1:g.29262_29263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+1054_954+1055del (ATG16L1) MANE Select	ENSP00000375872.4:n.954+1054_954+1055del
ENST00000347464.9:c.465+1054_465+1055del (ATG16L1)	ENSP00000318259.6:n.465+1054_465+1055del
ENST00000373525.9:c.522+1054_522+1055del (ATG16L1)	ENSP00000362625.5:n.522+1054_522+1055del
ENST00000392017.8:c.954+1054_954+1055del (ATG16L1)	ENSP00000375872.4:n.954+1054_954+1055del
ENST00000392018.1:c.1005+1054_1005+1055del (ATG16L1)	ENSP00000375873.1:n.1005+1054_1005+1055del
ENST00000392020.8:c.897+1054_897+1055del (ATG16L1)	ENSP00000375875.4:n.897+1054_897+1055del
ENST00000392021.7:c.*835+1054_*835+1055del (ATG16L1)	ENSP00000375876.3:n.*835+1054_*835+1055del
ENST00000419681.5:c.465+1054_465+1055del (ATG16L1)	ENSP00000398773.1:n.465+1054_465+1055del
ENST00000464645.5:n.89+365_89+366del (ATG16L1)
ENST00000474148.5:n.1749+1054_1749+1055del (ATG16L1)
ENST00000479942.5:n.1100+1054_1100+1055del (ATG16L1)
ENST00000492298.5:n.475+1054_475+1055del (ATG16L1)
ENST00000498620.5:n.461+1054_461+1055del (ATG16L1)
NM_001190266.1:c.702+1054_702+1055del (ATG16L1)	NP_001177195.1:n.702+1054_702+1055del
NM_001190267.1:c.606+1054_606+1055del (ATG16L1)	NP_001177196.1:n.606+1054_606+1055del
NM_017974.3:c.897+1054_897+1055del (ATG16L1)	NP_060444.3:n.897+1054_897+1055del
NM_030803.6:c.954+1054_954+1055del (ATG16L1)	NP_110430.5:n.954+1054_954+1055del
NM_198890.2:c.465+1054_465+1055del (ATG16L1)	NP_942593.2:n.465+1054_465+1055del
NR_003008.2:n.107_108del (SCARNA5)
XM_005246082.1:c.1005+1054_1005+1055del (ATG16L1)	XP_005246139.1:n.1005+1054_1005+1055del
XM_005246084.1:c.573+1054_573+1055del (ATG16L1)	XP_005246141.1:n.573+1054_573+1055del
XM_005246086.1:c.522+1054_522+1055del (ATG16L1)	XP_005246143.1:n.522+1054_522+1055del
XM_006712608.1:c.753+1054_753+1055del (ATG16L1)	XP_006712671.1:n.753+1054_753+1055del
XR_241242.1:n.1199+1054_1199+1055del (ATG16L1)
NM_001363742.1:c.1005+1054_1005+1055del (ATG16L1)	NP_001350671.1:n.1005+1054_1005+1055del
XM_005246084.2:c.573+1054_573+1055del (ATG16L1)	XP_005246141.1:n.573+1054_573+1055del
XM_005246086.2:c.522+1054_522+1055del (ATG16L1)	XP_005246143.1:n.522+1054_522+1055del
XM_006712608.3:c.753+1054_753+1055del (ATG16L1)	XP_006712671.1:n.753+1054_753+1055del
XR_001738801.2:n.1135+1054_1135+1055del (ATG16L1)
XR_241242.3:n.1186+1054_1186+1055del (ATG16L1)
NM_030803.7:c.954+1054_954+1055del (ATG16L1) MANE Select	NP_110430.5:n.954+1054_954+1055del
NM_001190266.2:c.702+1054_702+1055del (ATG16L1)	NP_001177195.1:n.702+1054_702+1055del
NM_001190267.2:c.606+1054_606+1055del (ATG16L1)	NP_001177196.1:n.606+1054_606+1055del
NM_001363742.2:c.1005+1054_1005+1055del (ATG16L1)	NP_001350671.1:n.1005+1054_1005+1055del
NM_017974.4:c.897+1054_897+1055del (ATG16L1)	NP_060444.3:n.897+1054_897+1055del
NM_198890.3:c.465+1054_465+1055del (ATG16L1)	NP_942593.2:n.465+1054_465+1055del