Canonical Allele Identifier: CA2631831556

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948554-C-CGGCATAGACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948554_13948555insGGCATAGACGG , CM000678.2:g.13948554_13948555insGGCATAGACGG	GRCh38
NC_000016.9:g.14042411_14042412insGGCATAGACGG , CM000678.1:g.14042411_14042412insGGCATAGACGG	GRCh37
NC_000016.8:g.13949912_13949913insGGCATAGACGG	NCBI36
NG_011442.1:g.33398_33399insGGCATAGACGG , LRG_463:g.33398_33399insGGCATAGACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*207_*208insGGCATAGACGG	ENSP00000507912.1:n.*207_*208insGGCATAGACGG
ENST00000683962.1:c.*2652_*2653insGGCATAGACGG	ENSP00000506854.1:n.*2652_*2653insGGCATAGACGG
ENST00000311895.8:c.*207_*208insGGCATAGACGG MANE Select	ENSP00000310520.7:n.*207_*208insGGCATAGACGG
ENST00000311895.7:c.*207_*208insGGCATAGACGG	ENSP00000310520.7:n.*207_*208insGGCATAGACGG
NM_005236.2:c.*207_*208insGGCATAGACGG , LRG_463t1:c.*207_*208insGGCATAGACGG	NP_005227.1:n.*207_*208insGGCATAGACGG
XM_011522424.1:c.*207_*208insGGCATAGACGG	XP_011520726.1:n.*207_*208insGGCATAGACGG
XM_011522425.1:c.*207_*208insGGCATAGACGG	XP_011520727.1:n.*207_*208insGGCATAGACGG
XM_011522426.1:c.*207_*208insGGCATAGACGG	XP_011520728.1:n.*207_*208insGGCATAGACGG
XM_011522427.1:c.*207_*208insGGCATAGACGG	XP_011520729.1:n.*207_*208insGGCATAGACGG
XR_932805.1:n.3073+44_3073+45insGGCATAGACGG
XM_011522424.3:c.*207_*208insGGCATAGACGG	XP_011520726.1:n.*207_*208insGGCATAGACGG
XM_017023043.2:c.*207_*208insGGCATAGACGG	XP_016878532.1:n.*207_*208insGGCATAGACGG
NM_005236.3:c.*207_*208insGGCATAGACGG MANE Select	NP_005227.1:n.*207_*208insGGCATAGACGG