Canonical Allele Identifier: CA621010695

Gene: ERCC4

Linked Data

• dbSNP Id: rs1324079578
• gnomAD v2: 16-14038228-TACAA-T
• gnomAD v3: 16-13944371-TACAA-T
• gnomAD v4: 16-13944371-TACAA-T
• MyVariant Identifiers: chr16:g.14038229_14038232del (hg19) ; chr16:g.13944372_13944375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944375_13944378del , CM000678.2:g.13944375_13944378del	GRCh38
NC_000016.9:g.14038232_14038235del , CM000678.1:g.14038232_14038235del	GRCh37
NC_000016.8:g.13945733_13945736del	NCBI36
NG_011442.1:g.29219_29222del , LRG_463:g.29219_29222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-348_2043-345del	ENSP00000507912.1:n.2043-348_2043-345del
ENST00000683962.1:c.*1599-348_*1599-345del	ENSP00000506854.1:n.*1599-348_*1599-345del
ENST00000311895.8:c.1905-348_1905-345del MANE Select	ENSP00000310520.7:n.1905-348_1905-345del
ENST00000311895.7:c.1905-348_1905-345del	ENSP00000310520.7:n.1905-348_1905-345del
ENST00000389138.7:n.1182-348_1182-345del
ENST00000462862.1:c.217+280_217+283del	ENSP00000461322.1:n.217+280_217+283del
NM_005236.2:c.1905-348_1905-345del , LRG_463t1:c.1905-348_1905-345del	NP_005227.1:n.1905-348_1905-345del
XM_011522424.1:c.2043-348_2043-345del	XP_011520726.1:n.2043-348_2043-345del
XM_011522425.1:c.1362-348_1362-345del	XP_011520727.1:n.1362-348_1362-345del
XM_011522426.1:c.1116-348_1116-345del	XP_011520728.1:n.1116-348_1116-345del
XM_011522427.1:c.555-348_555-345del	XP_011520729.1:n.555-348_555-345del
XR_932805.1:n.2064-348_2064-345del
XM_011522424.3:c.2043-348_2043-345del	XP_011520726.1:n.2043-348_2043-345del
XM_017023043.2:c.1116-348_1116-345del	XP_016878532.1:n.1116-348_1116-345del
NM_005236.3:c.1905-348_1905-345del MANE Select	NP_005227.1:n.1905-348_1905-345del