Canonical Allele Identifier: CA2209072912

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935372_13935376delinsCAAAG , CM000678.2:g.13935372_13935376delinsCAAAG	GRCh38
NC_000016.9:g.14029229_14029233delinsCAAAG , CM000678.1:g.14029229_14029233delinsCAAAG	GRCh37
NC_000016.8:g.13936730_13936734delinsCAAAG	NCBI36
NG_011442.1:g.20216_20220delinsCAAAG , LRG_463:g.20216_20220delinsCAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1518_1522delinsCAAAG
ENST00000682617.1:c.1578_1582delinsCAAAG	ENSP00000507912.1:p.Thr526=
ENST00000682826.1:c.*754_*758delinsCAAAG	ENSP00000507274.1:n.*754_*758delinsCAAAG
ENST00000682909.1:n.3480_3484delinsCAAAG
ENST00000683277.1:n.3085_3089delinsCAAAG
ENST00000683407.1:n.1448_1452delinsCAAAG
ENST00000683962.1:c.*1134_*1138delinsCAAAG	ENSP00000506854.1:n.*1134_*1138delinsCAAAG
ENST00000311895.8:c.1440_1444delinsCAAAG MANE Select	ENSP00000310520.7:p.Thr480=
ENST00000311895.7:c.1440_1444delinsCAAAG	ENSP00000310520.7:p.Thr480=
ENST00000389138.7:n.717_721delinsCAAAG
ENST00000573018.1:n.508_512delinsCAAAG
NM_005236.2:c.1440_1444delinsCAAAG , LRG_463t1:c.1440_1444delinsCAAAG	NP_005227.1:p.Thr480=
XM_011522424.1:c.1578_1582delinsCAAAG	XP_011520726.1:p.Thr526=
XM_011522425.1:c.897_901delinsCAAAG	XP_011520727.1:p.Thr299=
XM_011522426.1:c.651_655delinsCAAAG	XP_011520728.1:p.Thr217=
XM_011522427.1:c.90_94delinsCAAAG	XP_011520729.1:p.Thr30=
XR_932805.1:n.1599_1603delinsCAAAG
XM_011522424.3:c.1578_1582delinsCAAAG	XP_011520726.1:p.Thr526=
XM_017023043.2:c.651_655delinsCAAAG	XP_016878532.1:p.Thr217=
NM_005236.3:c.1440_1444delinsCAAAG MANE Select	NP_005227.1:p.Thr480=