Canonical Allele Identifier: CA2173511

Gene: ATG16L1

Linked Data

• dbSNP Id: rs767529830
• ExAC: 2:234173490 ACAGGGCTCTGGCG / A
• gnomAD v4: 2-233264844-ACAGGGCTCTGGCG-A
• MyVariant Identifiers: chr2:g.234173491_234173503del (hg19) ; chr2:g.233264845_233264857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233264845_233264857del , CM000664.2:g.233264845_233264857del	GRCh38
NC_000002.11:g.234173491_234173503del , CM000664.1:g.234173491_234173503del	GRCh37
NC_000002.10:g.233838230_233838242del	NCBI36
NG_023038.1:g.18275_18287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.390-47_390-35del MANE Select	ENSP00000375872.4:n.390-47_390-35del
ENST00000347464.9:c.210-5157_210-5145del	ENSP00000318259.6:n.210-5157_210-5145del
ENST00000373525.9:c.210-5157_210-5145del	ENSP00000362625.5:n.210-5157_210-5145del
ENST00000392017.8:c.390-47_390-35del	ENSP00000375872.4:n.390-47_390-35del
ENST00000392018.1:c.390-47_390-35del	ENSP00000375873.1:n.390-47_390-35del
ENST00000392020.8:c.390-47_390-35del	ENSP00000375875.4:n.390-47_390-35del
ENST00000392021.7:c.*271-47_*271-35del	ENSP00000375876.3:n.*271-47_*271-35del
ENST00000417017.5:c.389+780_389+792del	ENSP00000412046.1:n.389+780_389+792del
ENST00000419681.5:c.210-5157_210-5145del	ENSP00000398773.1:n.210-5157_210-5145del
ENST00000431917.5:c.138-47_138-35del	ENSP00000397512.1:n.138-47_138-35del
ENST00000444735.5:c.210-5157_210-5145del	ENSP00000409215.1:n.210-5157_210-5145del
ENST00000474148.5:n.517-47_517-35del
ENST00000479942.5:n.536-47_536-35del
NM_001190266.1:c.138-47_138-35del	NP_001177195.1:n.138-47_138-35del
NM_001190267.1:c.42-47_42-35del	NP_001177196.1:n.42-47_42-35del
NM_017974.3:c.390-47_390-35del	NP_060444.3:n.390-47_390-35del
NM_030803.6:c.390-47_390-35del	NP_110430.5:n.390-47_390-35del
NM_198890.2:c.210-5157_210-5145del	NP_942593.2:n.210-5157_210-5145del
XM_005246082.1:c.390-47_390-35del	XP_005246139.1:n.390-47_390-35del
XM_005246084.1:c.210-5157_210-5145del	XP_005246141.1:n.210-5157_210-5145del
XM_005246086.1:c.210-5157_210-5145del	XP_005246143.1:n.210-5157_210-5145del
XM_006712608.1:c.389+780_389+792del	XP_006712671.1:n.389+780_389+792del
XR_241242.1:n.584-47_584-35del
NM_001363742.1:c.390-47_390-35del	NP_001350671.1:n.390-47_390-35del
XM_005246084.2:c.210-5157_210-5145del	XP_005246141.1:n.210-5157_210-5145del
XM_005246086.2:c.210-5157_210-5145del	XP_005246143.1:n.210-5157_210-5145del
XM_006712608.3:c.389+780_389+792del	XP_006712671.1:n.389+780_389+792del
XR_001738801.2:n.571-47_571-35del
XR_241242.3:n.571-47_571-35del
NM_030803.7:c.390-47_390-35del MANE Select	NP_110430.5:n.390-47_390-35del
NM_001190266.2:c.138-47_138-35del	NP_001177195.1:n.138-47_138-35del
NM_001190267.2:c.42-47_42-35del	NP_001177196.1:n.42-47_42-35del
NM_001363742.2:c.390-47_390-35del	NP_001350671.1:n.390-47_390-35del
NM_017974.4:c.390-47_390-35del	NP_060444.3:n.390-47_390-35del
NM_198890.3:c.210-5157_210-5145del	NP_942593.2:n.210-5157_210-5145del