Canonical Allele Identifier: CA2631831412

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935361-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935364dup , CM000678.2:g.13935364dup	GRCh38
NC_000016.9:g.14029221dup , CM000678.1:g.14029221dup	GRCh37
NC_000016.8:g.13936722dup	NCBI36
NG_011442.1:g.20208dup , LRG_463:g.20208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1510dup
ENST00000682617.1:c.1570dup	ENSP00000507912.1:p.Ala524GlyfsTer25
ENST00000682826.1:c.*746dup	ENSP00000507274.1:n.*746dup
ENST00000682909.1:n.3472dup
ENST00000683277.1:n.3077dup
ENST00000683407.1:n.1440dup
ENST00000683962.1:c.*1126dup	ENSP00000506854.1:n.*1126dup
ENST00000311895.8:c.1432dup MANE Select	ENSP00000310520.7:p.Ala478GlyfsTer25
ENST00000311895.7:c.1432dup	ENSP00000310520.7:p.Ala478GlyfsTer25
ENST00000389138.7:n.709dup
ENST00000573018.1:n.500dup
NM_005236.2:c.1432dup , LRG_463t1:c.1432dup	NP_005227.1:p.Ala478GlyfsTer25
XM_011522424.1:c.1570dup	XP_011520726.1:p.Ala524GlyfsTer25
XM_011522425.1:c.889dup	XP_011520727.1:p.Ala297GlyfsTer25
XM_011522426.1:c.643dup	XP_011520728.1:p.Ala215GlyfsTer25
XM_011522427.1:c.82dup	XP_011520729.1:p.Ala28GlyfsTer25
XR_932805.1:n.1591dup
XM_011522424.3:c.1570dup	XP_011520726.1:p.Ala524GlyfsTer25
XM_017023043.2:c.643dup	XP_016878532.1:p.Ala215GlyfsTer25
NM_005236.3:c.1432dup MANE Select	NP_005227.1:p.Ala478GlyfsTer25