Canonical Allele Identifier: CA718305225

Gene: ERCC4

Linked Data

• dbSNP Id: rs1489528415
• gnomAD v3: 16-13947757-GA-G
• gnomAD v4: 16-13947757-GA-G
• MyVariant Identifiers: chr16:g.14041615del (hg19) ; chr16:g.13947758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947760del , CM000678.2:g.13947760del	GRCh38
NC_000016.9:g.14041617del , CM000678.1:g.14041617del	GRCh37
NC_000016.8:g.13949118del	NCBI36
NG_011442.1:g.32604del , LRG_463:g.32604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2302del	ENSP00000507912.1:p.Met768CysfsTer11
ENST00000683962.1:c.*1858del	ENSP00000506854.1:n.*1858del
ENST00000311895.8:c.2164del MANE Select	ENSP00000310520.7:p.Met722CysfsTer11
ENST00000311895.7:c.2164del	ENSP00000310520.7:p.Met722CysfsTer11
ENST00000389138.7:n.1441del
ENST00000462862.1:c.477del	ENSP00000461322.1:n.477del
NM_005236.2:c.2164del , LRG_463t1:c.2164del	NP_005227.1:p.Met722CysfsTer11
XM_011522424.1:c.2302del	XP_011520726.1:p.Met768CysfsTer11
XM_011522425.1:c.1621del	XP_011520727.1:p.Met541CysfsTer11
XM_011522426.1:c.1375del	XP_011520728.1:p.Met459CysfsTer11
XM_011522427.1:c.814del	XP_011520729.1:p.Met272CysfsTer11
XR_932805.1:n.2323del
XM_011522424.3:c.2302del	XP_011520726.1:p.Met768CysfsTer11
XM_017023043.2:c.1375del	XP_016878532.1:p.Met459CysfsTer11
NM_005236.3:c.2164del MANE Select	NP_005227.1:p.Met722CysfsTer11