Canonical Allele Identifier: CA718303697

Gene: ERCC4

Linked Data

• dbSNP Id: rs1216877420
• gnomAD v3: 16-13945050-CAT-C
• gnomAD v4: 16-13945050-CAT-C
• MyVariant Identifiers: chr16:g.14038908_14038909del (hg19) ; chr16:g.13945051_13945052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13945051_13945052del , CM000678.2:g.13945051_13945052del	GRCh38
NC_000016.9:g.14038908_14038909del , CM000678.1:g.14038908_14038909del	GRCh37
NC_000016.8:g.13946409_13946410del	NCBI36
NG_011442.1:g.29895_29896del , LRG_463:g.29895_29896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+216_2155+217del	ENSP00000507912.1:n.2155+216_2155+217del
ENST00000683962.1:c.*1711+216_*1711+217del	ENSP00000506854.1:n.*1711+216_*1711+217del
ENST00000311895.8:c.2017+216_2017+217del MANE Select	ENSP00000310520.7:n.2017+216_2017+217del
ENST00000311895.7:c.2017+216_2017+217del	ENSP00000310520.7:n.2017+216_2017+217del
ENST00000389138.7:n.1294+216_1294+217del
ENST00000462862.1:c.330+216_330+217del	ENSP00000461322.1:n.330+216_330+217del
NM_005236.2:c.2017+216_2017+217del , LRG_463t1:c.2017+216_2017+217del	NP_005227.1:n.2017+216_2017+217del
XM_011522424.1:c.2155+216_2155+217del	XP_011520726.1:n.2155+216_2155+217del
XM_011522425.1:c.1474+216_1474+217del	XP_011520727.1:n.1474+216_1474+217del
XM_011522426.1:c.1228+216_1228+217del	XP_011520728.1:n.1228+216_1228+217del
XM_011522427.1:c.667+216_667+217del	XP_011520729.1:n.667+216_667+217del
XR_932805.1:n.2176+216_2176+217del
XM_011522424.3:c.2155+216_2155+217del	XP_011520726.1:n.2155+216_2155+217del
XM_017023043.2:c.1228+216_1228+217del	XP_016878532.1:n.1228+216_1228+217del
NM_005236.3:c.2017+216_2017+217del MANE Select	NP_005227.1:n.2017+216_2017+217del