Canonical Allele Identifier: CA2805944209

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947837dup , CM000678.2:g.13947837dup	GRCh38
NC_000016.9:g.14041694dup , CM000678.1:g.14041694dup	GRCh37
NC_000016.8:g.13949195dup	NCBI36
NG_011442.1:g.32681dup , LRG_463:g.32681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2379dup	ENSP00000507912.1:p.Met794HisfsTer13
ENST00000683962.1:c.*1935dup	ENSP00000506854.1:n.*1935dup
ENST00000311895.8:c.2241dup MANE Select	ENSP00000310520.7:p.Met748HisfsTer13
ENST00000311895.7:c.2241dup	ENSP00000310520.7:p.Met748HisfsTer13
ENST00000389138.7:n.1518dup
ENST00000462862.1:c.554dup	ENSP00000461322.1:n.554dup
NM_005236.2:c.2241dup , LRG_463t1:c.2241dup	NP_005227.1:p.Met748HisfsTer13
XM_011522424.1:c.2379dup	XP_011520726.1:p.Met794HisfsTer13
XM_011522425.1:c.1698dup	XP_011520727.1:p.Met567HisfsTer13
XM_011522426.1:c.1452dup	XP_011520728.1:p.Met485HisfsTer13
XM_011522427.1:c.891dup	XP_011520729.1:p.Met298HisfsTer13
XR_932805.1:n.2400dup
XM_011522424.3:c.2379dup	XP_011520726.1:p.Met794HisfsTer13
XM_017023043.2:c.1452dup	XP_016878532.1:p.Met485HisfsTer13
NM_005236.3:c.2241dup MANE Select	NP_005227.1:p.Met748HisfsTer13