Canonical Allele Identifier: CA67555113

Gene: ATG16L1

Linked Data

• dbSNP Id: rs760981890
• gnomAD v2: 2-234183278-CCT-C
• gnomAD v4: 2-233274632-CCT-C
• MyVariant Identifiers: chr2:g.234183279_234183280del (hg19) ; chr2:g.233274633_233274634del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274635_233274636del , CM000664.2:g.233274635_233274636del	GRCh38
NC_000002.11:g.234183281_234183282del , CM000664.1:g.234183281_234183282del	GRCh37
NC_000002.10:g.233848020_233848021del	NCBI36
NG_023038.1:g.28065_28066del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.852-41_852-40del MANE Select	ENSP00000375872.4:n.852-41_852-40del
ENST00000347464.9:c.363-41_363-40del	ENSP00000318259.6:n.363-41_363-40del
ENST00000373525.9:c.420-41_420-40del	ENSP00000362625.5:n.420-41_420-40del
ENST00000392017.8:c.852-41_852-40del	ENSP00000375872.4:n.852-41_852-40del
ENST00000392018.1:c.903-41_903-40del	ENSP00000375873.1:n.903-41_903-40del
ENST00000392020.8:c.795-41_795-40del	ENSP00000375875.4:n.795-41_795-40del
ENST00000392021.7:c.*733-41_*733-40del	ENSP00000375876.3:n.*733-41_*733-40del
ENST00000419681.5:c.363-41_363-40del	ENSP00000398773.1:n.363-41_363-40del
ENST00000444735.5:c.471-41_471-40del	ENSP00000409215.1:n.471-41_471-40del
ENST00000474148.5:n.1647-41_1647-40del
ENST00000479942.5:n.998-41_998-40del
ENST00000492298.5:n.332_333del
ENST00000498620.5:n.359-41_359-40del
NM_001190266.1:c.600-41_600-40del	NP_001177195.1:n.600-41_600-40del
NM_001190267.1:c.504-41_504-40del	NP_001177196.1:n.504-41_504-40del
NM_017974.3:c.795-41_795-40del	NP_060444.3:n.795-41_795-40del
NM_030803.6:c.852-41_852-40del	NP_110430.5:n.852-41_852-40del
NM_198890.2:c.363-41_363-40del	NP_942593.2:n.363-41_363-40del
XM_005246082.1:c.903-41_903-40del	XP_005246139.1:n.903-41_903-40del
XM_005246084.1:c.471-41_471-40del	XP_005246141.1:n.471-41_471-40del
XM_005246086.1:c.420-41_420-40del	XP_005246143.1:n.420-41_420-40del
XM_006712608.1:c.651-41_651-40del	XP_006712671.1:n.651-41_651-40del
XR_241242.1:n.1097-41_1097-40del
NM_001363742.1:c.903-41_903-40del	NP_001350671.1:n.903-41_903-40del
XM_005246084.2:c.471-41_471-40del	XP_005246141.1:n.471-41_471-40del
XM_005246086.2:c.420-41_420-40del	XP_005246143.1:n.420-41_420-40del
XM_006712608.3:c.651-41_651-40del	XP_006712671.1:n.651-41_651-40del
XR_001738801.2:n.1033-41_1033-40del
XR_241242.3:n.1084-41_1084-40del
NM_030803.7:c.852-41_852-40del MANE Select	NP_110430.5:n.852-41_852-40del
NM_001190266.2:c.600-41_600-40del	NP_001177195.1:n.600-41_600-40del
NM_001190267.2:c.504-41_504-40del	NP_001177196.1:n.504-41_504-40del
NM_001363742.2:c.903-41_903-40del	NP_001350671.1:n.903-41_903-40del
NM_017974.4:c.795-41_795-40del	NP_060444.3:n.795-41_795-40del
NM_198890.3:c.363-41_363-40del	NP_942593.2:n.363-41_363-40del