Canonical Allele Identifier: CA2805944169

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948213_13948214insAAACAACCAAACACACCCA , CM000678.2:g.13948213_13948214insAAACAACCAAACACACCCA	GRCh38
NC_000016.9:g.14042070_14042071insAAACAACCAAACACACCCA , CM000678.1:g.14042070_14042071insAAACAACCAAACACACCCA	GRCh37
NC_000016.8:g.13949571_13949572insAAACAACCAAACACACCCA	NCBI36
NG_011442.1:g.33057_33058insAAACAACCAAACACACCCA , LRG_463:g.33057_33058insAAACAACCAAACACACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2755_2756insAAACAACCAAACACACCCA	ENSP00000507912.1:p.Ile919LysfsTer33
ENST00000683962.1:c.*2311_*2312insAAACAACCAAACACACCCA	ENSP00000506854.1:n.*2311_*2312insAAACAACCAAACACACCCA
ENST00000311895.8:c.2617_2618insAAACAACCAAACACACCCA MANE Select	ENSP00000310520.7:p.Ile873LysfsTer33
ENST00000311895.7:c.2617_2618insAAACAACCAAACACACCCA	ENSP00000310520.7:p.Ile873LysfsTer33
ENST00000389138.7:n.1894_1895insAAACAACCAAACACACCCA
NM_005236.2:c.2617_2618insAAACAACCAAACACACCCA , LRG_463t1:c.2617_2618insAAACAACCAAACACACCCA	NP_005227.1:p.Ile873LysfsTer33
XM_011522424.1:c.2755_2756insAAACAACCAAACACACCCA	XP_011520726.1:p.Ile919LysfsTer33
XM_011522425.1:c.2074_2075insAAACAACCAAACACACCCA	XP_011520727.1:p.Ile692LysfsTer33
XM_011522426.1:c.1828_1829insAAACAACCAAACACACCCA	XP_011520728.1:p.Ile610LysfsTer33
XM_011522427.1:c.1267_1268insAAACAACCAAACACACCCA	XP_011520729.1:p.Ile423LysfsTer33
XR_932805.1:n.2776_2777insAAACAACCAAACACACCCA
XM_011522424.3:c.2755_2756insAAACAACCAAACACACCCA	XP_011520726.1:p.Ile919LysfsTer33
XM_017023043.2:c.1828_1829insAAACAACCAAACACACCCA	XP_016878532.1:p.Ile610LysfsTer33
NM_005236.3:c.2617_2618insAAACAACCAAACACACCCA MANE Select	NP_005227.1:p.Ile873LysfsTer33