Canonical Allele Identifier: CA2209082931

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948229_13948233delinsCCCTG , CM000678.2:g.13948229_13948233delinsCCCTG	GRCh38
NC_000016.9:g.14042086_14042090delinsCCCTG , CM000678.1:g.14042086_14042090delinsCCCTG	GRCh37
NC_000016.8:g.13949587_13949591delinsCCCTG	NCBI36
NG_011442.1:g.33073_33077delinsCCCTG , LRG_463:g.33073_33077delinsCCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2771_2775delinsCCCTG	ENSP00000507912.1:p.Ala924=
ENST00000683962.1:c.*2327_*2331delinsCCCTG	ENSP00000506854.1:n.*2327_*2331delinsCCCT...
ENST00000311895.8:c.2633_2637delinsCCCTG MANE Select	ENSP00000310520.7:p.Ala878=
ENST00000311895.7:c.2633_2637delinsCCCTG	ENSP00000310520.7:p.Ala878=
ENST00000389138.7:n.1910_1914delinsCCCTG
NM_005236.2:c.2633_2637delinsCCCTG , LRG_463t1:c.2633_2637delinsCCCTG	NP_005227.1:p.Ala878=
XM_011522424.1:c.2771_2775delinsCCCTG	XP_011520726.1:p.Ala924=
XM_011522425.1:c.2090_2094delinsCCCTG	XP_011520727.1:p.Ala697=
XM_011522426.1:c.1844_1848delinsCCCTG	XP_011520728.1:p.Ala615=
XM_011522427.1:c.1283_1287delinsCCCTG	XP_011520729.1:p.Ala428=
XR_932805.1:n.2792_2796delinsCCCTG
XM_011522424.3:c.2771_2775delinsCCCTG	XP_011520726.1:p.Ala924=
XM_017023043.2:c.1844_1848delinsCCCTG	XP_016878532.1:p.Ala615=
NM_005236.3:c.2633_2637delinsCCCTG MANE Select	NP_005227.1:p.Ala878=