Canonical Allele Identifier: CA2209082802
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947970_13947981delinsACACTTCACTTC , CM000678.2:g.13947970_13947981delinsACACTTCACTTC GRCh38
NC_000016.9:g.14041827_14041838delinsACACTTCACTTC , CM000678.1:g.14041827_14041838delinsACACTTCACTTC GRCh37
NC_000016.8:g.13949328_13949339delinsACACTTCACTTC NCBI36
NG_011442.1:g.32814_32825delinsACACTTCACTTC , LRG_463:g.32814_32825delinsACACTTCACTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2512_2523delinsACACTTCACTTC ENSP00000507912.1:p.Thr838=
ENST00000683962.1:c.*2068_*2079delinsACACTTCACTTC ENSP00000506854.1:n.*2068_*2079delinsACACTTCACTTC
ENST00000311895.8:c.2374_2385delinsACACTTCACTTC MANE Select ENSP00000310520.7:p.Thr792=
ENST00000311895.7:c.2374_2385delinsACACTTCACTTC ENSP00000310520.7:p.Thr792=
ENST00000389138.7:n.1651_1662delinsACACTTCACTTC
ENST00000462862.1:c.687_698delinsACACTTCACTTC ENSP00000461322.1:n.687_698delinsACACTTCACTTC
NM_005236.2:c.2374_2385delinsACACTTCACTTC , LRG_463t1:c.2374_2385delinsACACTTCACTTC NP_005227.1:p.Thr792=
XM_011522424.1:c.2512_2523delinsACACTTCACTTC XP_011520726.1:p.Thr838=
XM_011522425.1:c.1831_1842delinsACACTTCACTTC XP_011520727.1:p.Thr611=
XM_011522426.1:c.1585_1596delinsACACTTCACTTC XP_011520728.1:p.Thr529=
XM_011522427.1:c.1024_1035delinsACACTTCACTTC XP_011520729.1:p.Thr342=
XR_932805.1:n.2533_2544delinsACACTTCACTTC
XM_011522424.3:c.2512_2523delinsACACTTCACTTC XP_011520726.1:p.Thr838=
XM_017023043.2:c.1585_1596delinsACACTTCACTTC XP_016878532.1:p.Thr529=
NM_005236.3:c.2374_2385delinsACACTTCACTTC MANE Select NP_005227.1:p.Thr792=