Canonical Allele Identifier: CA2580090714

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2048776
• ClinVar RCV Id: RCV002909368

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948044_13948045insCAACAAAGCACAAAG , CM000678.2:g.13948044_13948045insCAACAAAGCACAAAG	GRCh38
NC_000016.9:g.14041901_14041902insCAACAAAGCACAAAG , CM000678.1:g.14041901_14041902insCAACAAAGCACAAAG	GRCh37
NC_000016.8:g.13949402_13949403insCAACAAAGCACAAAG	NCBI36
NG_011442.1:g.32888_32889insCAACAAAGCACAAAG , LRG_463:g.32888_32889insCAACAAAGCACAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2586_2587insCAACAAAGCACAAAG	ENSP00000507912.1:p.Leu862_Lys863insGlnGlnSerThrLys
ENST00000683962.1:c.*2142_*2143insCAACAAAGCACAAAG	ENSP00000506854.1:n.*2142_*2143insCAACAAAGCACAAAG
ENST00000311895.8:c.2448_2449insCAACAAAGCACAAAG MANE Select	ENSP00000310520.7:p.Leu816_Lys817insGlnGlnSerThrLys
ENST00000311895.7:c.2448_2449insCAACAAAGCACAAAG	ENSP00000310520.7:p.Leu816_Lys817insGlnGlnSerThrLys
ENST00000389138.7:n.1725_1726insCAACAAAGCACAAAG
NM_005236.2:c.2448_2449insCAACAAAGCACAAAG , LRG_463t1:c.2448_2449insCAACAAAGCACAAAG	NP_005227.1:p.Leu816_Lys817insGlnGlnSerThrLys
XM_011522424.1:c.2586_2587insCAACAAAGCACAAAG	XP_011520726.1:p.Leu862_Lys863insGlnGlnSerThrLys
XM_011522425.1:c.1905_1906insCAACAAAGCACAAAG	XP_011520727.1:p.Leu635_Lys636insGlnGlnSerThrLys
XM_011522426.1:c.1659_1660insCAACAAAGCACAAAG	XP_011520728.1:p.Leu553_Lys554insGlnGlnSerThrLys
XM_011522427.1:c.1098_1099insCAACAAAGCACAAAG	XP_011520729.1:p.Leu366_Lys367insGlnGlnSerThrLys
XR_932805.1:n.2607_2608insCAACAAAGCACAAAG
XM_011522424.3:c.2586_2587insCAACAAAGCACAAAG	XP_011520726.1:p.Leu862_Lys863insGlnGlnSerThrLys
XM_017023043.2:c.1659_1660insCAACAAAGCACAAAG	XP_016878532.1:p.Leu553_Lys554insGlnGlnSerThrLys
NM_005236.3:c.2448_2449insCAACAAAGCACAAAG MANE Select	NP_005227.1:p.Leu816_Lys817insGlnGlnSerThrLys