Canonical Allele Identifier: CA919662894

Gene: ERCC4

Linked Data

• dbSNP Id: rs1567253994
• gnomAD v4: 16-13948009-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948013_13948015del , CM000678.2:g.13948013_13948015del	GRCh38
NC_000016.9:g.14041870_14041872del , CM000678.1:g.14041870_14041872del	GRCh37
NC_000016.8:g.13949371_13949373del	NCBI36
NG_011442.1:g.32857_32859del , LRG_463:g.32857_32859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2555_2557del	ENSP00000507912.1:p.Pro852del
ENST00000683962.1:c.*2111_*2113del	ENSP00000506854.1:n.*2111_*2113del
ENST00000311895.8:c.2417_2419del MANE Select	ENSP00000310520.7:p.Pro806del
ENST00000311895.7:c.2417_2419del	ENSP00000310520.7:p.Pro806del
ENST00000389138.7:n.1694_1696del
NM_005236.2:c.2417_2419del , LRG_463t1:c.2417_2419del	NP_005227.1:p.Pro806del
XM_011522424.1:c.2555_2557del	XP_011520726.1:p.Pro852del
XM_011522425.1:c.1874_1876del	XP_011520727.1:p.Pro625del
XM_011522426.1:c.1628_1630del	XP_011520728.1:p.Pro543del
XM_011522427.1:c.1067_1069del	XP_011520729.1:p.Pro356del
XR_932805.1:n.2576_2578del
XM_011522424.3:c.2555_2557del	XP_011520726.1:p.Pro852del
XM_017023043.2:c.1628_1630del	XP_016878532.1:p.Pro543del
NM_005236.3:c.2417_2419del MANE Select	NP_005227.1:p.Pro806del