Canonical Allele Identifier: CA2577281507

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274696-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274699del , CM000664.2:g.233274699del	GRCh38
NC_000002.11:g.234183345del , CM000664.1:g.234183345del	GRCh37
NC_000002.10:g.233848084del	NCBI36
NG_023038.1:g.28129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.875del MANE Select	ENSP00000375872.4:p.Pro292GlnfsTer17
ENST00000347464.9:c.386del	ENSP00000318259.6:p.Pro129GlnfsTer17
ENST00000373525.9:c.443del	ENSP00000362625.5:p.Pro148GlnfsTer17
ENST00000392017.8:c.875del	ENSP00000375872.4:p.Pro292GlnfsTer17
ENST00000392018.1:c.926del	ENSP00000375873.1:p.Pro309GlnfsTer17
ENST00000392020.8:c.818del	ENSP00000375875.4:p.Pro273GlnfsTer17
ENST00000392021.7:c.*756del	ENSP00000375876.3:n.*756del
ENST00000419681.5:c.386del	ENSP00000398773.1:p.Pro129GlnfsTer17
ENST00000444735.5:c.494del	ENSP00000409215.1:p.Pro165GlnfsTer?
ENST00000474148.5:n.1670del
ENST00000479942.5:n.1021del
ENST00000492298.5:n.396del
ENST00000498620.5:n.382del
NM_001190266.1:c.623del	NP_001177195.1:p.Pro208GlnfsTer17
NM_001190267.1:c.527del	NP_001177196.1:p.Pro176GlnfsTer17
NM_017974.3:c.818del	NP_060444.3:p.Pro273GlnfsTer17
NM_030803.6:c.875del	NP_110430.5:p.Pro292GlnfsTer17
NM_198890.2:c.386del	NP_942593.2:p.Pro129GlnfsTer17
XM_005246082.1:c.926del	XP_005246139.1:p.Pro309GlnfsTer17
XM_005246084.1:c.494del	XP_005246141.1:p.Pro165GlnfsTer17
XM_005246086.1:c.443del	XP_005246143.1:p.Pro148GlnfsTer17
XM_006712608.1:c.674del	XP_006712671.1:p.Pro225GlnfsTer17
XR_241242.1:n.1120del
NM_001363742.1:c.926del	NP_001350671.1:p.Pro309GlnfsTer17
XM_005246084.2:c.494del	XP_005246141.1:p.Pro165GlnfsTer17
XM_005246086.2:c.443del	XP_005246143.1:p.Pro148GlnfsTer17
XM_006712608.3:c.674del	XP_006712671.1:p.Pro225GlnfsTer17
XR_001738801.2:n.1056del
XR_241242.3:n.1107del
NM_030803.7:c.875del MANE Select	NP_110430.5:p.Pro292GlnfsTer17
NM_001190266.2:c.623del	NP_001177195.1:p.Pro208GlnfsTer17
NM_001190267.2:c.527del	NP_001177196.1:p.Pro176GlnfsTer17
NM_001363742.2:c.926del	NP_001350671.1:p.Pro309GlnfsTer17
NM_017974.4:c.818del	NP_060444.3:p.Pro273GlnfsTer17
NM_198890.3:c.386del	NP_942593.2:p.Pro129GlnfsTer17