Canonical Allele Identifier: CA2631833500

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944769-GAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944774_13944777del , CM000678.2:g.13944774_13944777del	GRCh38
NC_000016.9:g.14038631_14038634del , CM000678.1:g.14038631_14038634del	GRCh37
NC_000016.8:g.13946132_13946135del	NCBI36
NG_011442.1:g.29618_29621del , LRG_463:g.29618_29621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2094_2097del	ENSP00000507912.1:p.Asn699Ter
ENST00000683962.1:c.*1650_*1653del	ENSP00000506854.1:n.*1650_*1653del
ENST00000311895.8:c.1956_1959del MANE Select	ENSP00000310520.7:p.Asn653Ter
ENST00000311895.7:c.1956_1959del	ENSP00000310520.7:p.Asn653Ter
ENST00000389138.7:n.1233_1236del
ENST00000462862.1:c.269_272del	ENSP00000461322.1:n.269_272del
NM_005236.2:c.1956_1959del , LRG_463t1:c.1956_1959del	NP_005227.1:p.Asn653Ter
XM_011522424.1:c.2094_2097del	XP_011520726.1:p.Asn699Ter
XM_011522425.1:c.1413_1416del	XP_011520727.1:p.Asn472Ter
XM_011522426.1:c.1167_1170del	XP_011520728.1:p.Asn390Ter
XM_011522427.1:c.606_609del	XP_011520729.1:p.Asn203Ter
XR_932805.1:n.2115_2118del
XM_011522424.3:c.2094_2097del	XP_011520726.1:p.Asn699Ter
XM_017023043.2:c.1167_1170del	XP_016878532.1:p.Asn390Ter
NM_005236.3:c.1956_1959del MANE Select	NP_005227.1:p.Asn653Ter