Canonical Allele Identifier: CA278482177

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1276400
• ClinVar RCV Id: RCV001687592
• dbSNP Id: rs3136206
• gnomAD v2: 16-14038360-AAGT-A
• gnomAD v3: 16-13944503-AAGT-A
• gnomAD v4: 16-13944503-AAGT-A
• MyVariant Identifiers: chr16:g.14038361_14038363del (hg19) ; chr16:g.13944504_13944506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944508_13944510del , CM000678.2:g.13944508_13944510del	GRCh38
NC_000016.9:g.14038365_14038367del , CM000678.1:g.14038365_14038367del	GRCh37
NC_000016.8:g.13945866_13945868del	NCBI36
NG_011442.1:g.29352_29354del , LRG_463:g.29352_29354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-215_2043-213del	ENSP00000507912.1:n.2043-215_2043-213del
ENST00000683962.1:c.*1599-215_*1599-213del	ENSP00000506854.1:n.*1599-215_*1599-213del
ENST00000311895.8:c.1905-215_1905-213del MANE Select	ENSP00000310520.7:n.1905-215_1905-213del
ENST00000311895.7:c.1905-215_1905-213del	ENSP00000310520.7:n.1905-215_1905-213del
ENST00000389138.7:n.1182-215_1182-213del
ENST00000462862.1:c.218-215_218-213del	ENSP00000461322.1:n.218-215_218-213del
NM_005236.2:c.1905-215_1905-213del , LRG_463t1:c.1905-215_1905-213del	NP_005227.1:n.1905-215_1905-213del
XM_011522424.1:c.2043-215_2043-213del	XP_011520726.1:n.2043-215_2043-213del
XM_011522425.1:c.1362-215_1362-213del	XP_011520727.1:n.1362-215_1362-213del
XM_011522426.1:c.1116-215_1116-213del	XP_011520728.1:n.1116-215_1116-213del
XM_011522427.1:c.555-215_555-213del	XP_011520729.1:n.555-215_555-213del
XR_932805.1:n.2064-215_2064-213del
XM_011522424.3:c.2043-215_2043-213del	XP_011520726.1:n.2043-215_2043-213del
XM_017023043.2:c.1116-215_1116-213del	XP_016878532.1:n.1116-215_1116-213del
NM_005236.3:c.1905-215_1905-213del MANE Select	NP_005227.1:n.1905-215_1905-213del