Canonical Allele Identifier: CA7910729

Gene: ERCC4

Linked Data

• dbSNP Id: rs775452814
• ExAC: 16:14041827 ACACTTCACTTC / A
• gnomAD v2: 16-14041827-ACACTTCACTTC-A
• gnomAD v4: 16-13947970-ACACTTCACTTC-A
• MyVariant Identifiers: chr16:g.14041828_14041838del (hg19) ; chr16:g.13947971_13947981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947972_13947982del , CM000678.2:g.13947972_13947982del	GRCh38
NC_000016.9:g.14041829_14041839del , CM000678.1:g.14041829_14041839del	GRCh37
NC_000016.8:g.13949330_13949340del	NCBI36
NG_011442.1:g.32816_32826del , LRG_463:g.32816_32826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2514_2524del	ENSP00000507912.1:p.Leu839GlnfsTer18
ENST00000683962.1:c.*2070_*2080del	ENSP00000506854.1:n.*2070_*2080del
ENST00000311895.8:c.2376_2386del MANE Select	ENSP00000310520.7:p.Leu793GlnfsTer18
ENST00000311895.7:c.2376_2386del	ENSP00000310520.7:p.Leu793GlnfsTer18
ENST00000389138.7:n.1653_1663del
ENST00000462862.1:c.689_699del	ENSP00000461322.1:n.689_699del
NM_005236.2:c.2376_2386del , LRG_463t1:c.2376_2386del	NP_005227.1:p.Leu793GlnfsTer18
XM_011522424.1:c.2514_2524del	XP_011520726.1:p.Leu839GlnfsTer18
XM_011522425.1:c.1833_1843del	XP_011520727.1:p.Leu612GlnfsTer18
XM_011522426.1:c.1587_1597del	XP_011520728.1:p.Leu530GlnfsTer18
XM_011522427.1:c.1026_1036del	XP_011520729.1:p.Leu343GlnfsTer18
XR_932805.1:n.2535_2545del
XM_011522424.3:c.2514_2524del	XP_011520726.1:p.Leu839GlnfsTer18
XM_017023043.2:c.1587_1597del	XP_016878532.1:p.Leu530GlnfsTer18
NM_005236.3:c.2376_2386del MANE Select	NP_005227.1:p.Leu793GlnfsTer18