Canonical Allele Identifier: CA2209081259

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944371_13944375delinsTACAA , CM000678.2:g.13944371_13944375delinsTACAA	GRCh38
NC_000016.9:g.14038228_14038232delinsTACAA , CM000678.1:g.14038228_14038232delinsTACAA	GRCh37
NC_000016.8:g.13945729_13945733delinsTACAA	NCBI36
NG_011442.1:g.29215_29219delinsTACAA , LRG_463:g.29215_29219delinsTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-352_2043-348delinsTACAA	ENSP00000507912.1:n.2043-352_2043-348delinsTACAA
ENST00000683962.1:c.*1599-352_*1599-348delinsTACAA	ENSP00000506854.1:n.*1599-352_*1599-348delinsTACAA
ENST00000311895.8:c.1905-352_1905-348delinsTACAA MANE Select	ENSP00000310520.7:n.1905-352_1905-348delinsTACAA
ENST00000311895.7:c.1905-352_1905-348delinsTACAA	ENSP00000310520.7:n.1905-352_1905-348delinsTACAA
ENST00000389138.7:n.1182-352_1182-348delinsTACAA
ENST00000462862.1:c.217+276_217+280delinsTACAA	ENSP00000461322.1:n.217+276_217+280delinsTACAA
NM_005236.2:c.1905-352_1905-348delinsTACAA , LRG_463t1:c.1905-352_1905-348delinsTACAA	NP_005227.1:n.1905-352_1905-348delinsTACAA
XM_011522424.1:c.2043-352_2043-348delinsTACAA	XP_011520726.1:n.2043-352_2043-348delinsTACAA
XM_011522425.1:c.1362-352_1362-348delinsTACAA	XP_011520727.1:n.1362-352_1362-348delinsTACAA
XM_011522426.1:c.1116-352_1116-348delinsTACAA	XP_011520728.1:n.1116-352_1116-348delinsTACAA
XM_011522427.1:c.555-352_555-348delinsTACAA	XP_011520729.1:n.555-352_555-348delinsTACAA
XR_932805.1:n.2064-352_2064-348delinsTACAA
XM_011522424.3:c.2043-352_2043-348delinsTACAA	XP_011520726.1:n.2043-352_2043-348delinsTACAA
XM_017023043.2:c.1116-352_1116-348delinsTACAA	XP_016878532.1:n.1116-352_1116-348delinsTACAA
NM_005236.3:c.1905-352_1905-348delinsTACAA MANE Select	NP_005227.1:n.1905-352_1905-348delinsTACAA