Canonical Allele Identifier: CA7910653

Gene: ERCC4

Linked Data

• dbSNP Id: rs767368287
• ExAC: 16:14041449 A / ATTACTTACT
• gnomAD v2: 16-14041449-A-ATTACTTACT
• gnomAD v3: 16-13947592-A-ATTACTTACT
• gnomAD v4: 16-13947592-A-ATTACTTACT
• MyVariant Identifiers: chr16:g.14041449_14041450insTTACTTACT (hg19) ; chr16:g.13947592_13947593insTTACTTACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947595_13947603dup , CM000678.2:g.13947595_13947603dup	GRCh38
NC_000016.9:g.14041452_14041460dup , CM000678.1:g.14041452_14041460dup	GRCh37
NC_000016.8:g.13948953_13948961dup	NCBI36
NG_011442.1:g.32439_32447dup , LRG_463:g.32439_32447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2156-19_2156-11dup	ENSP00000507912.1:n.2156-19_2156-11dup
ENST00000683962.1:c.*1712-19_*1712-11dup	ENSP00000506854.1:n.*1712-19_*1712-11dup
ENST00000311895.8:c.2018-19_2018-11dup MANE Select	ENSP00000310520.7:n.2018-19_2018-11dup
ENST00000311895.7:c.2018-19_2018-11dup	ENSP00000310520.7:n.2018-19_2018-11dup
ENST00000389138.7:n.1295-19_1295-11dup
ENST00000462862.1:c.331-19_331-11dup	ENSP00000461322.1:n.331-19_331-11dup
NM_005236.2:c.2018-19_2018-11dup , LRG_463t1:c.2018-19_2018-11dup	NP_005227.1:n.2018-19_2018-11dup
XM_011522424.1:c.2156-19_2156-11dup	XP_011520726.1:n.2156-19_2156-11dup
XM_011522425.1:c.1475-19_1475-11dup	XP_011520727.1:n.1475-19_1475-11dup
XM_011522426.1:c.1229-19_1229-11dup	XP_011520728.1:n.1229-19_1229-11dup
XM_011522427.1:c.668-19_668-11dup	XP_011520729.1:n.668-19_668-11dup
XR_932805.1:n.2177-19_2177-11dup
XM_011522424.3:c.2156-19_2156-11dup	XP_011520726.1:n.2156-19_2156-11dup
XM_017023043.2:c.1229-19_1229-11dup	XP_016878532.1:n.1229-19_1229-11dup
NM_005236.3:c.2018-19_2018-11dup MANE Select	NP_005227.1:n.2018-19_2018-11dup