Canonical Allele Identifier: CA2631831666

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935588-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935592_13935594del , CM000678.2:g.13935592_13935594del	GRCh38
NC_000016.9:g.14029449_14029451del , CM000678.1:g.14029449_14029451del	GRCh37
NC_000016.8:g.13936950_13936952del	NCBI36
NG_011442.1:g.20436_20438del , LRG_463:g.20436_20438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1738_1740del
ENST00000682617.1:c.1798_1800del	ENSP00000507912.1:p.Ile600del
ENST00000682826.1:c.*974_*976del	ENSP00000507274.1:n.*974_*976del
ENST00000682909.1:n.3700_3702del
ENST00000683277.1:n.3305_3307del
ENST00000683407.1:n.1668_1670del
ENST00000683962.1:c.*1354_*1356del	ENSP00000506854.1:n.*1354_*1356del
ENST00000311895.8:c.1660_1662del MANE Select	ENSP00000310520.7:p.Ile554del
ENST00000311895.7:c.1660_1662del	ENSP00000310520.7:p.Ile554del
ENST00000389138.7:n.937_939del
NM_005236.2:c.1660_1662del , LRG_463t1:c.1660_1662del	NP_005227.1:p.Ile554del
XM_011522424.1:c.1798_1800del	XP_011520726.1:p.Ile600del
XM_011522425.1:c.1117_1119del	XP_011520727.1:p.Ile373del
XM_011522426.1:c.871_873del	XP_011520728.1:p.Ile291del
XM_011522427.1:c.310_312del	XP_011520729.1:p.Ile104del
XR_932805.1:n.1819_1821del
XM_011522424.3:c.1798_1800del	XP_011520726.1:p.Ile600del
XM_017023043.2:c.871_873del	XP_016878532.1:p.Ile291del
NM_005236.3:c.1660_1662del MANE Select	NP_005227.1:p.Ile554del