Canonical Allele Identifier: CA2534337505

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948625-C-CCTTCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948625_13948626insCTTCTGT , CM000678.2:g.13948625_13948626insCTTCTGT	GRCh38
NC_000016.9:g.14042482_14042483insCTTCTGT , CM000678.1:g.14042482_14042483insCTTCTGT	GRCh37
NC_000016.8:g.13949983_13949984insCTTCTGT	NCBI36
NG_011442.1:g.33469_33470insCTTCTGT , LRG_463:g.33469_33470insCTTCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*278_*279insCTTCTGT	ENSP00000507912.1:n.*278_*279insCTTCTGT
ENST00000683962.1:c.*2723_*2724insCTTCTGT	ENSP00000506854.1:n.*2723_*2724insCTTCTGT
ENST00000311895.8:c.*278_*279insCTTCTGT MANE Select	ENSP00000310520.7:n.*278_*279insCTTCTGT
ENST00000311895.7:c.*278_*279insCTTCTGT	ENSP00000310520.7:n.*278_*279insCTTCTGT
NM_005236.2:c.*278_*279insCTTCTGT , LRG_463t1:c.*278_*279insCTTCTGT	NP_005227.1:n.*278_*279insCTTCTGT
XM_011522424.1:c.*278_*279insCTTCTGT	XP_011520726.1:n.*278_*279insCTTCTGT
XM_011522425.1:c.*278_*279insCTTCTGT	XP_011520727.1:n.*278_*279insCTTCTGT
XM_011522426.1:c.*278_*279insCTTCTGT	XP_011520728.1:n.*278_*279insCTTCTGT
XM_011522427.1:c.*278_*279insCTTCTGT	XP_011520729.1:n.*278_*279insCTTCTGT
XR_932805.1:n.3074-88_3074-87insCTTCTGT
XM_011522424.3:c.*278_*279insCTTCTGT	XP_011520726.1:n.*278_*279insCTTCTGT
XM_017023043.2:c.*278_*279insCTTCTGT	XP_016878532.1:n.*278_*279insCTTCTGT
NM_005236.3:c.*278_*279insCTTCTGT MANE Select	NP_005227.1:n.*278_*279insCTTCTGT