Canonical Allele Identifier: CA278486313

Gene: ERCC4

Linked Data

• dbSNP Id: rs1031773581
• gnomAD v3: 16-13948529-TG-T
• gnomAD v4: 16-13948529-TG-T
• MyVariant Identifiers: chr16:g.14042387del (hg19) ; chr16:g.13948530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948530del , CM000678.2:g.13948530del	GRCh38
NC_000016.9:g.14042387del , CM000678.1:g.14042387del	GRCh37
NC_000016.8:g.13949888del	NCBI36
NG_011442.1:g.33374del , LRG_463:g.33374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*183del	ENSP00000507912.1:n.*183del
ENST00000683962.1:c.*2628del	ENSP00000506854.1:n.*2628del
ENST00000311895.8:c.*183del MANE Select	ENSP00000310520.7:n.*183del
ENST00000311895.7:c.*183del	ENSP00000310520.7:n.*183del
NM_005236.2:c.*183del , LRG_463t1:c.*183del	NP_005227.1:n.*183del
XM_011522424.1:c.*183del	XP_011520726.1:n.*183del
XM_011522425.1:c.*183del	XP_011520727.1:n.*183del
XM_011522426.1:c.*183del	XP_011520728.1:n.*183del
XM_011522427.1:c.*183del	XP_011520729.1:n.*183del
XR_932805.1:n.3073+20del
XM_011522424.3:c.*183del	XP_011520726.1:n.*183del
XM_017023043.2:c.*183del	XP_016878532.1:n.*183del
NM_005236.3:c.*183del MANE Select	NP_005227.1:n.*183del