Canonical Allele Identifier: CA1335660703

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233264844_233264857delinsACAGGGCTCTGGCG , CM000664.2:g.233264844_233264857delinsACAGGGCTCTGGCG	GRCh38
NC_000002.11:g.234173490_234173503delinsACAGGGCTCTGGCG , CM000664.1:g.234173490_234173503delinsACAGGGCTCTGGCG	GRCh37
NC_000002.10:g.233838229_233838242delinsACAGGGCTCTGGCG	NCBI36
NG_023038.1:g.18274_18287delinsACAGGGCTCTGGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.390-48_390-35delinsACAGGGCTCTGGCG MANE Select	ENSP00000375872.4:n.390-48_390-35delinsAC...
ENST00000347464.9:c.210-5158_210-5145delinsACAGGGCTCTGGCG	ENSP00000318259.6:n.210-5158_210-5145deli...
ENST00000373525.9:c.210-5158_210-5145delinsACAGGGCTCTGGCG	ENSP00000362625.5:n.210-5158_210-5145deli...
ENST00000392017.8:c.390-48_390-35delinsACAGGGCTCTGGCG	ENSP00000375872.4:n.390-48_390-35delinsAC...
ENST00000392018.1:c.390-48_390-35delinsACAGGGCTCTGGCG	ENSP00000375873.1:n.390-48_390-35delinsAC...
ENST00000392020.8:c.390-48_390-35delinsACAGGGCTCTGGCG	ENSP00000375875.4:n.390-48_390-35delinsAC...
ENST00000392021.7:c.*271-48_*271-35delinsACAGGGCTCTGGCG	ENSP00000375876.3:n.*271-48_*271-35delins...
ENST00000417017.5:c.389+779_389+792delinsACAGGGCTCTGGCG	ENSP00000412046.1:n.389+779_389+792delins...
ENST00000419681.5:c.210-5158_210-5145delinsACAGGGCTCTGGCG	ENSP00000398773.1:n.210-5158_210-5145deli...
ENST00000431917.5:c.138-48_138-35delinsACAGGGCTCTGGCG	ENSP00000397512.1:n.138-48_138-35delinsAC...
ENST00000444735.5:c.210-5158_210-5145delinsACAGGGCTCTGGCG	ENSP00000409215.1:n.210-5158_210-5145deli...
ENST00000474148.5:n.517-48_517-35delinsACAGGGCTCTGGCG
ENST00000479942.5:n.536-48_536-35delinsACAGGGCTCTGGCG
NM_001190266.1:c.138-48_138-35delinsACAGGGCTCTGGCG	NP_001177195.1:n.138-48_138-35delinsACAGG...
NM_001190267.1:c.42-48_42-35delinsACAGGGCTCTGGCG	NP_001177196.1:n.42-48_42-35delinsACAGGGC...
NM_017974.3:c.390-48_390-35delinsACAGGGCTCTGGCG	NP_060444.3:n.390-48_390-35delinsACAGGGCT...
NM_030803.6:c.390-48_390-35delinsACAGGGCTCTGGCG	NP_110430.5:n.390-48_390-35delinsACAGGGCT...
NM_198890.2:c.210-5158_210-5145delinsACAGGGCTCTGGCG	NP_942593.2:n.210-5158_210-5145delinsACAG...
XM_005246082.1:c.390-48_390-35delinsACAGGGCTCTGGCG	XP_005246139.1:n.390-48_390-35delinsACAGG...
XM_005246084.1:c.210-5158_210-5145delinsACAGGGCTCTGGCG	XP_005246141.1:n.210-5158_210-5145delinsA...
XM_005246086.1:c.210-5158_210-5145delinsACAGGGCTCTGGCG	XP_005246143.1:n.210-5158_210-5145delinsA...
XM_006712608.1:c.389+779_389+792delinsACAGGGCTCTGGCG	XP_006712671.1:n.389+779_389+792delinsACA...
XR_241242.1:n.584-48_584-35delinsACAGGGCTCTGGCG
NM_001363742.1:c.390-48_390-35delinsACAGGGCTCTGGCG	NP_001350671.1:n.390-48_390-35delinsACAGG...
XM_005246084.2:c.210-5158_210-5145delinsACAGGGCTCTGGCG	XP_005246141.1:n.210-5158_210-5145delinsA...
XM_005246086.2:c.210-5158_210-5145delinsACAGGGCTCTGGCG	XP_005246143.1:n.210-5158_210-5145delinsA...
XM_006712608.3:c.389+779_389+792delinsACAGGGCTCTGGCG	XP_006712671.1:n.389+779_389+792delinsACA...
XR_001738801.2:n.571-48_571-35delinsACAGGGCTCTGGCG
XR_241242.3:n.571-48_571-35delinsACAGGGCTCTGGCG
NM_030803.7:c.390-48_390-35delinsACAGGGCTCTGGCG MANE Select	NP_110430.5:n.390-48_390-35delinsACAGGGCT...
NM_001190266.2:c.138-48_138-35delinsACAGGGCTCTGGCG	NP_001177195.1:n.138-48_138-35delinsACAGG...
NM_001190267.2:c.42-48_42-35delinsACAGGGCTCTGGCG	NP_001177196.1:n.42-48_42-35delinsACAGGGC...
NM_001363742.2:c.390-48_390-35delinsACAGGGCTCTGGCG	NP_001350671.1:n.390-48_390-35delinsACAGG...
NM_017974.4:c.390-48_390-35delinsACAGGGCTCTGGCG	NP_060444.3:n.390-48_390-35delinsACAGGGCT...
NM_198890.3:c.210-5158_210-5145delinsACAGGGCTCTGGCG	NP_942593.2:n.210-5158_210-5145delinsACAG...