Canonical Allele Identifier: CA766241871

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1363393614
• gnomAD v3: 2-233274549-TAGA-T
• gnomAD v4: 2-233274549-TAGA-T
• MyVariant Identifiers: chr2:g.233274550_233274552del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274552_233274554del , CM000664.2:g.233274552_233274554del	GRCh38
NC_000002.11:g.234183198_234183200del , CM000664.1:g.234183198_234183200del	GRCh37
NC_000002.10:g.233847937_233847939del	NCBI36
NG_023038.1:g.27982_27984del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.852-124_852-122del MANE Select	ENSP00000375872.4:n.852-124_852-122del
ENST00000347464.9:c.363-124_363-122del	ENSP00000318259.6:n.363-124_363-122del
ENST00000373525.9:c.420-124_420-122del	ENSP00000362625.5:n.420-124_420-122del
ENST00000392017.8:c.852-124_852-122del	ENSP00000375872.4:n.852-124_852-122del
ENST00000392018.1:c.903-124_903-122del	ENSP00000375873.1:n.903-124_903-122del
ENST00000392020.8:c.795-124_795-122del	ENSP00000375875.4:n.795-124_795-122del
ENST00000392021.7:c.*733-124_*733-122del	ENSP00000375876.3:n.*733-124_*733-122del
ENST00000419681.5:c.363-124_363-122del	ENSP00000398773.1:n.363-124_363-122del
ENST00000444735.5:c.471-124_471-122del	ENSP00000409215.1:n.471-124_471-122del
ENST00000474148.5:n.1647-124_1647-122del
ENST00000479942.5:n.998-124_998-122del
ENST00000492298.5:n.249_251del
ENST00000498620.5:n.359-124_359-122del
NM_001190266.1:c.600-124_600-122del	NP_001177195.1:n.600-124_600-122del
NM_001190267.1:c.504-124_504-122del	NP_001177196.1:n.504-124_504-122del
NM_017974.3:c.795-124_795-122del	NP_060444.3:n.795-124_795-122del
NM_030803.6:c.852-124_852-122del	NP_110430.5:n.852-124_852-122del
NM_198890.2:c.363-124_363-122del	NP_942593.2:n.363-124_363-122del
XM_005246082.1:c.903-124_903-122del	XP_005246139.1:n.903-124_903-122del
XM_005246084.1:c.471-124_471-122del	XP_005246141.1:n.471-124_471-122del
XM_005246086.1:c.420-124_420-122del	XP_005246143.1:n.420-124_420-122del
XM_006712608.1:c.651-124_651-122del	XP_006712671.1:n.651-124_651-122del
XR_241242.1:n.1097-124_1097-122del
NM_001363742.1:c.903-124_903-122del	NP_001350671.1:n.903-124_903-122del
XM_005246084.2:c.471-124_471-122del	XP_005246141.1:n.471-124_471-122del
XM_005246086.2:c.420-124_420-122del	XP_005246143.1:n.420-124_420-122del
XM_006712608.3:c.651-124_651-122del	XP_006712671.1:n.651-124_651-122del
XR_001738801.2:n.1033-124_1033-122del
XR_241242.3:n.1084-124_1084-122del
NM_030803.7:c.852-124_852-122del MANE Select	NP_110430.5:n.852-124_852-122del
NM_001190266.2:c.600-124_600-122del	NP_001177195.1:n.600-124_600-122del
NM_001190267.2:c.504-124_504-122del	NP_001177196.1:n.504-124_504-122del
NM_001363742.2:c.903-124_903-122del	NP_001350671.1:n.903-124_903-122del
NM_017974.4:c.795-124_795-122del	NP_060444.3:n.795-124_795-122del
NM_198890.3:c.363-124_363-122del	NP_942593.2:n.363-124_363-122del