Canonical Allele Identifier: CA621010700

Gene: ERCC4

Linked Data

• dbSNP Id: rs1232330551
• gnomAD v2: 16-14038326-TAAAC-T
• gnomAD v3: 16-13944469-TAAAC-T
• gnomAD v4: 16-13944469-TAAAC-T
• MyVariant Identifiers: chr16:g.14038327_14038330del (hg19) ; chr16:g.13944470_13944473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944472_13944475del , CM000678.2:g.13944472_13944475del	GRCh38
NC_000016.9:g.14038329_14038332del , CM000678.1:g.14038329_14038332del	GRCh37
NC_000016.8:g.13945830_13945833del	NCBI36
NG_011442.1:g.29316_29319del , LRG_463:g.29316_29319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-251_2043-248del	ENSP00000507912.1:n.2043-251_2043-248del
ENST00000683962.1:c.*1599-251_*1599-248del	ENSP00000506854.1:n.*1599-251_*1599-248del
ENST00000311895.8:c.1905-251_1905-248del MANE Select	ENSP00000310520.7:n.1905-251_1905-248del
ENST00000311895.7:c.1905-251_1905-248del	ENSP00000310520.7:n.1905-251_1905-248del
ENST00000389138.7:n.1182-251_1182-248del
ENST00000462862.1:c.218-251_218-248del	ENSP00000461322.1:n.218-251_218-248del
NM_005236.2:c.1905-251_1905-248del , LRG_463t1:c.1905-251_1905-248del	NP_005227.1:n.1905-251_1905-248del
XM_011522424.1:c.2043-251_2043-248del	XP_011520726.1:n.2043-251_2043-248del
XM_011522425.1:c.1362-251_1362-248del	XP_011520727.1:n.1362-251_1362-248del
XM_011522426.1:c.1116-251_1116-248del	XP_011520728.1:n.1116-251_1116-248del
XM_011522427.1:c.555-251_555-248del	XP_011520729.1:n.555-251_555-248del
XR_932805.1:n.2064-251_2064-248del
XM_011522424.3:c.2043-251_2043-248del	XP_011520726.1:n.2043-251_2043-248del
XM_017023043.2:c.1116-251_1116-248del	XP_016878532.1:n.1116-251_1116-248del
NM_005236.3:c.1905-251_1905-248del MANE Select	NP_005227.1:n.1905-251_1905-248del