Canonical Allele Identifier: CA621010711

Gene: ERCC4

Linked Data

• dbSNP Id: rs1450841324
• gnomAD v2: 16-14038477-TGC-T
• MyVariant Identifiers: chr16:g.14038478_14038479del (hg19) ; chr16:g.13944621_13944622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944621_13944622del , CM000678.2:g.13944621_13944622del	GRCh38
NC_000016.9:g.14038478_14038479del , CM000678.1:g.14038478_14038479del	GRCh37
NC_000016.8:g.13945979_13945980del	NCBI36
NG_011442.1:g.29465_29466del , LRG_463:g.29465_29466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-102_2043-101del	ENSP00000507912.1:n.2043-102_2043-101del
ENST00000683962.1:c.*1599-102_*1599-101del	ENSP00000506854.1:n.*1599-102_*1599-101del
ENST00000311895.8:c.1905-102_1905-101del MANE Select	ENSP00000310520.7:n.1905-102_1905-101del
ENST00000311895.7:c.1905-102_1905-101del	ENSP00000310520.7:n.1905-102_1905-101del
ENST00000389138.7:n.1182-102_1182-101del
ENST00000462862.1:c.218-102_218-101del	ENSP00000461322.1:n.218-102_218-101del
NM_005236.2:c.1905-102_1905-101del , LRG_463t1:c.1905-102_1905-101del	NP_005227.1:n.1905-102_1905-101del
XM_011522424.1:c.2043-102_2043-101del	XP_011520726.1:n.2043-102_2043-101del
XM_011522425.1:c.1362-102_1362-101del	XP_011520727.1:n.1362-102_1362-101del
XM_011522426.1:c.1116-102_1116-101del	XP_011520728.1:n.1116-102_1116-101del
XM_011522427.1:c.555-102_555-101del	XP_011520729.1:n.555-102_555-101del
XR_932805.1:n.2064-102_2064-101del
XM_011522424.3:c.2043-102_2043-101del	XP_011520726.1:n.2043-102_2043-101del
XM_017023043.2:c.1116-102_1116-101del	XP_016878532.1:n.1116-102_1116-101del
NM_005236.3:c.1905-102_1905-101del MANE Select	NP_005227.1:n.1905-102_1905-101del