Canonical Allele Identifier: CA2805943896

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935351_13935352insCCCCAAACACACCC , CM000678.2:g.13935351_13935352insCCCCAAACACACCC	GRCh38
NC_000016.9:g.14029208_14029209insCCCCAAACACACCC , CM000678.1:g.14029208_14029209insCCCCAAACACACCC	GRCh37
NC_000016.8:g.13936709_13936710insCCCCAAACACACCC	NCBI36
NG_011442.1:g.20195_20196insCCCCAAACACACCC , LRG_463:g.20195_20196insCCCCAAACACACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1497_1498insCCCCAAACACACCC
ENST00000682617.1:c.1557_1558insCCCCAAACACACCC	ENSP00000507912.1:p.Asn520ProfsTer24
ENST00000682826.1:c.*733_*734insCCCCAAACACACCC	ENSP00000507274.1:n.*733_*734insCCCCAAACACACCC
ENST00000682909.1:n.3459_3460insCCCCAAACACACCC
ENST00000683277.1:n.3064_3065insCCCCAAACACACCC
ENST00000683407.1:n.1427_1428insCCCCAAACACACCC
ENST00000683962.1:c.*1113_*1114insCCCCAAACACACCC	ENSP00000506854.1:n.*1113_*1114insCCCCAAACACACCC
ENST00000311895.8:c.1419_1420insCCCCAAACACACCC MANE Select	ENSP00000310520.7:p.Asn474ProfsTer24
ENST00000311895.7:c.1419_1420insCCCCAAACACACCC	ENSP00000310520.7:p.Asn474ProfsTer24
ENST00000389138.7:n.696_697insCCCCAAACACACCC
ENST00000573018.1:n.487_488insCCCCAAACACACCC
NM_005236.2:c.1419_1420insCCCCAAACACACCC , LRG_463t1:c.1419_1420insCCCCAAACACACCC	NP_005227.1:p.Asn474ProfsTer24
XM_011522424.1:c.1557_1558insCCCCAAACACACCC	XP_011520726.1:p.Asn520ProfsTer24
XM_011522425.1:c.876_877insCCCCAAACACACCC	XP_011520727.1:p.Asn293ProfsTer24
XM_011522426.1:c.630_631insCCCCAAACACACCC	XP_011520728.1:p.Asn211ProfsTer24
XM_011522427.1:c.69_70insCCCCAAACACACCC	XP_011520729.1:p.Asn24ProfsTer24
XR_932805.1:n.1578_1579insCCCCAAACACACCC
XM_011522424.3:c.1557_1558insCCCCAAACACACCC	XP_011520726.1:p.Asn520ProfsTer24
XM_017023043.2:c.630_631insCCCCAAACACACCC	XP_016878532.1:p.Asn211ProfsTer24
NM_005236.3:c.1419_1420insCCCCAAACACACCC MANE Select	NP_005227.1:p.Asn474ProfsTer24