Canonical Allele Identifier: CA7910773

Gene: ERCC4

Linked Data

• dbSNP Id: rs760599709
• ExAC: 16:14042048 C / CT
• gnomAD v2: 16-14042048-C-CT
• gnomAD v4: 16-13948191-C-CT
• MyVariant Identifiers: chr16:g.14042048_14042049insT (hg19) ; chr16:g.13948191_13948192insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948193dup , CM000678.2:g.13948193dup	GRCh38
NC_000016.9:g.14042050dup , CM000678.1:g.14042050dup	GRCh37
NC_000016.8:g.13949551dup	NCBI36
NG_011442.1:g.33037dup , LRG_463:g.33037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2735dup	ENSP00000507912.1:p.Leu912PhefsTer6
ENST00000683962.1:c.*2291dup	ENSP00000506854.1:n.*2291dup
ENST00000311895.8:c.2597dup MANE Select	ENSP00000310520.7:p.Leu866PhefsTer6
ENST00000311895.7:c.2597dup	ENSP00000310520.7:p.Leu866PhefsTer6
ENST00000389138.7:n.1874dup
NM_005236.2:c.2597dup , LRG_463t1:c.2597dup	NP_005227.1:p.Leu866PhefsTer6
XM_011522424.1:c.2735dup	XP_011520726.1:p.Leu912PhefsTer6
XM_011522425.1:c.2054dup	XP_011520727.1:p.Leu685PhefsTer6
XM_011522426.1:c.1808dup	XP_011520728.1:p.Leu603PhefsTer6
XM_011522427.1:c.1247dup	XP_011520729.1:p.Leu416PhefsTer6
XR_932805.1:n.2756dup
XM_011522424.3:c.2735dup	XP_011520726.1:p.Leu912PhefsTer6
XM_017023043.2:c.1808dup	XP_016878532.1:p.Leu603PhefsTer6
NM_005236.3:c.2597dup MANE Select	NP_005227.1:p.Leu866PhefsTer6