Canonical Allele Identifier: CA621178907

Gene: ERCC4

Linked Data

• gnomAD v2: 16-14029440-CT-C
• gnomAD v4: 16-13935583-CT-C
• MyVariant Identifiers: chr16:g.14029441del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935584del , CM000678.2:g.13935584del	GRCh38
NC_000016.9:g.14029441del , CM000678.1:g.14029441del	GRCh37
NC_000016.8:g.13936942del	NCBI36
NG_011442.1:g.20428del , LRG_463:g.20428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1730del
ENST00000682617.1:c.1790del	ENSP00000507912.1:p.Leu597ProfsTer16
ENST00000682826.1:c.*966del	ENSP00000507274.1:n.*966del
ENST00000682909.1:n.3692del
ENST00000683277.1:n.3297del
ENST00000683407.1:n.1660del
ENST00000683962.1:c.*1346del	ENSP00000506854.1:n.*1346del
ENST00000311895.8:c.1652del MANE Select	ENSP00000310520.7:p.Leu551ProfsTer16
ENST00000311895.7:c.1652del	ENSP00000310520.7:p.Leu551ProfsTer16
ENST00000389138.7:n.929del
NM_005236.2:c.1652del , LRG_463t1:c.1652del	NP_005227.1:p.Leu551ProfsTer16
XM_011522424.1:c.1790del	XP_011520726.1:p.Leu597ProfsTer16
XM_011522425.1:c.1109del	XP_011520727.1:p.Leu370ProfsTer16
XM_011522426.1:c.863del	XP_011520728.1:p.Leu288ProfsTer16
XM_011522427.1:c.302del	XP_011520729.1:p.Leu101ProfsTer16
XR_932805.1:n.1811del
XM_011522424.3:c.1790del	XP_011520726.1:p.Leu597ProfsTer16
XM_017023043.2:c.863del	XP_016878532.1:p.Leu288ProfsTer16
NM_005236.3:c.1652del MANE Select	NP_005227.1:p.Leu551ProfsTer16