Canonical Allele Identifier: CA718303659

Gene: ERCC4

Linked Data

• dbSNP Id: rs1244610245
• gnomAD v3: 16-13944898-T-TTA
• gnomAD v4: 16-13944898-T-TTA
• MyVariant Identifiers: chr16:g.14038755_14038756insTA (hg19) ; chr16:g.13944898_13944899insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944899_13944900dup , CM000678.2:g.13944899_13944900dup	GRCh38
NC_000016.9:g.14038756_14038757dup , CM000678.1:g.14038756_14038757dup	GRCh37
NC_000016.8:g.13946257_13946258dup	NCBI36
NG_011442.1:g.29743_29744dup , LRG_463:g.29743_29744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+64_2155+65dup	ENSP00000507912.1:n.2155+64_2155+65dup
ENST00000683962.1:c.*1711+64_*1711+65dup	ENSP00000506854.1:n.*1711+64_*1711+65dup
ENST00000311895.8:c.2017+64_2017+65dup MANE Select	ENSP00000310520.7:n.2017+64_2017+65dup
ENST00000311895.7:c.2017+64_2017+65dup	ENSP00000310520.7:n.2017+64_2017+65dup
ENST00000389138.7:n.1294+64_1294+65dup
ENST00000462862.1:c.330+64_330+65dup	ENSP00000461322.1:n.330+64_330+65dup
NM_005236.2:c.2017+64_2017+65dup , LRG_463t1:c.2017+64_2017+65dup	NP_005227.1:n.2017+64_2017+65dup
XM_011522424.1:c.2155+64_2155+65dup	XP_011520726.1:n.2155+64_2155+65dup
XM_011522425.1:c.1474+64_1474+65dup	XP_011520727.1:n.1474+64_1474+65dup
XM_011522426.1:c.1228+64_1228+65dup	XP_011520728.1:n.1228+64_1228+65dup
XM_011522427.1:c.667+64_667+65dup	XP_011520729.1:n.667+64_667+65dup
XR_932805.1:n.2176+64_2176+65dup
XM_011522424.3:c.2155+64_2155+65dup	XP_011520726.1:n.2155+64_2155+65dup
XM_017023043.2:c.1228+64_1228+65dup	XP_016878532.1:n.1228+64_1228+65dup
NM_005236.3:c.2017+64_2017+65dup MANE Select	NP_005227.1:n.2017+64_2017+65dup