Canonical Allele Identifier: CA2209081242
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944326_13944327delinsCT , CM000678.2:g.13944326_13944327delinsCT GRCh38
NC_000016.9:g.14038183_14038184delinsCT , CM000678.1:g.14038183_14038184delinsCT GRCh37
NC_000016.8:g.13945684_13945685delinsCT NCBI36
NG_011442.1:g.29170_29171delinsCT , LRG_463:g.29170_29171delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2043-397_2043-396delinsCT ENSP00000507912.1:n.2043-397_2043-396delinsCT
ENST00000683962.1:c.*1599-397_*1599-396delinsCT ENSP00000506854.1:n.*1599-397_*1599-396delinsCT
ENST00000311895.8:c.1905-397_1905-396delinsCT MANE Select ENSP00000310520.7:n.1905-397_1905-396delinsCT
ENST00000311895.7:c.1905-397_1905-396delinsCT ENSP00000310520.7:n.1905-397_1905-396delinsCT
ENST00000389138.7:n.1182-397_1182-396delinsCT
ENST00000462862.1:c.217+231_217+232delinsCT ENSP00000461322.1:n.217+231_217+232delinsCT
NM_005236.2:c.1905-397_1905-396delinsCT , LRG_463t1:c.1905-397_1905-396delinsCT NP_005227.1:n.1905-397_1905-396delinsCT
XM_011522424.1:c.2043-397_2043-396delinsCT XP_011520726.1:n.2043-397_2043-396delinsCT
XM_011522425.1:c.1362-397_1362-396delinsCT XP_011520727.1:n.1362-397_1362-396delinsCT
XM_011522426.1:c.1116-397_1116-396delinsCT XP_011520728.1:n.1116-397_1116-396delinsCT
XM_011522427.1:c.555-397_555-396delinsCT XP_011520729.1:n.555-397_555-396delinsCT
XR_932805.1:n.2064-397_2064-396delinsCT
XM_011522424.3:c.2043-397_2043-396delinsCT XP_011520726.1:n.2043-397_2043-396delinsCT
XM_017023043.2:c.1116-397_1116-396delinsCT XP_016878532.1:n.1116-397_1116-396delinsCT
NM_005236.3:c.1905-397_1905-396delinsCT MANE Select NP_005227.1:n.1905-397_1905-396delinsCT