Canonical Allele Identifier: CA1335670502

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233286410_233286413delinsGTGT , CM000664.2:g.233286410_233286413delinsGTGT	GRCh38
NC_000002.11:g.234195056_234195059delinsGTGT , CM000664.1:g.234195056_234195059delinsGTGT	GRCh37
NC_000002.10:g.233859795_233859798delinsGTGT	NCBI36
NG_023038.1:g.39840_39843delinsGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.1204-3444_1204-3441delinsGTGT MANE Select	ENSP00000375872.4:n.1204-3444_1204-3441delinsGTGT
ENST00000347464.9:c.715-3444_715-3441delinsGTGT	ENSP00000318259.6:n.715-3444_715-3441delinsGTGT
ENST00000373525.9:c.667-3444_667-3441delinsGTGT	ENSP00000362625.5:n.667-3444_667-3441delinsGTGT
ENST00000392017.8:c.1204-3444_1204-3441delinsGTGT	ENSP00000375872.4:n.1204-3444_1204-3441delinsGTGT
ENST00000392018.1:c.1255-3444_1255-3441delinsGTGT	ENSP00000375873.1:n.1255-3444_1255-3441delinsGTGT
ENST00000392020.8:c.1147-3444_1147-3441delinsGTGT	ENSP00000375875.4:n.1147-3444_1147-3441delinsGTGT
ENST00000392021.7:c.*1085-3444_*1085-3441delinsGTGT	ENSP00000375876.3:n.*1085-3444_*1085-3441delinsGTGT
ENST00000464645.5:n.339-3444_339-3441delinsGTGT
ENST00000474148.5:n.1999-3444_1999-3441delinsGTGT
ENST00000479942.5:n.1350-3444_1350-3441delinsGTGT
ENST00000498620.5:n.711-3444_711-3441delinsGTGT
NM_001190266.1:c.952-3444_952-3441delinsGTGT	NP_001177195.1:n.952-3444_952-3441delinsGTGT
NM_001190267.1:c.856-3444_856-3441delinsGTGT	NP_001177196.1:n.856-3444_856-3441delinsGTGT
NM_017974.3:c.1147-3444_1147-3441delinsGTGT	NP_060444.3:n.1147-3444_1147-3441delinsGTGT
NM_030803.6:c.1204-3444_1204-3441delinsGTGT	NP_110430.5:n.1204-3444_1204-3441delinsGTGT
NM_198890.2:c.715-3444_715-3441delinsGTGT	NP_942593.2:n.715-3444_715-3441delinsGTGT
XM_005246082.1:c.1255-3444_1255-3441delinsGTGT	XP_005246139.1:n.1255-3444_1255-3441delinsGTGT
XM_005246084.1:c.823-3444_823-3441delinsGTGT	XP_005246141.1:n.823-3444_823-3441delinsGTGT
XM_005246086.1:c.772-3444_772-3441delinsGTGT	XP_005246143.1:n.772-3444_772-3441delinsGTGT
XM_006712608.1:c.1003-3444_1003-3441delinsGTGT	XP_006712671.1:n.1003-3444_1003-3441delinsGTGT
XR_241242.1:n.1449-3444_1449-3441delinsGTGT
NM_001363742.1:c.1255-3444_1255-3441delinsGTGT	NP_001350671.1:n.1255-3444_1255-3441delinsGTGT
XM_005246084.2:c.823-3444_823-3441delinsGTGT	XP_005246141.1:n.823-3444_823-3441delinsGTGT
XM_005246086.2:c.772-3444_772-3441delinsGTGT	XP_005246143.1:n.772-3444_772-3441delinsGTGT
XM_006712608.3:c.1003-3444_1003-3441delinsGTGT	XP_006712671.1:n.1003-3444_1003-3441delinsGTGT
XR_001738801.2:n.1385-3444_1385-3441delinsGTGT
XR_241242.3:n.1436-3444_1436-3441delinsGTGT
NM_030803.7:c.1204-3444_1204-3441delinsGTGT MANE Select	NP_110430.5:n.1204-3444_1204-3441delinsGTGT
NM_001190266.2:c.952-3444_952-3441delinsGTGT	NP_001177195.1:n.952-3444_952-3441delinsGTGT
NM_001190267.2:c.856-3444_856-3441delinsGTGT	NP_001177196.1:n.856-3444_856-3441delinsGTGT
NM_001363742.2:c.1255-3444_1255-3441delinsGTGT	NP_001350671.1:n.1255-3444_1255-3441delinsGTGT
NM_017974.4:c.1147-3444_1147-3441delinsGTGT	NP_060444.3:n.1147-3444_1147-3441delinsGTGT
NM_198890.3:c.715-3444_715-3441delinsGTGT	NP_942593.2:n.715-3444_715-3441delinsGTGT