Canonical Allele Identifier: CA974912039

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032267362
• gnomAD v3: 16-13935447-AGAGGAAGGAGATGTC-A
• gnomAD v4: 16-13935447-AGAGGAAGGAGATGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935457_13935471del , CM000678.2:g.13935457_13935471del	GRCh38
NC_000016.9:g.14029314_14029328del , CM000678.1:g.14029314_14029328del	GRCh37
NC_000016.8:g.13936815_13936829del	NCBI36
NG_011442.1:g.20301_20315del , LRG_463:g.20301_20315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1603_1617del
ENST00000682617.1:c.1663_1677del	ENSP00000507912.1:p.Asp555_Gly559del
ENST00000682826.1:c.*839_*853del	ENSP00000507274.1:n.*839_*853del
ENST00000682909.1:n.3565_3579del
ENST00000683277.1:n.3170_3184del
ENST00000683407.1:n.1533_1547del
ENST00000683962.1:c.*1219_*1233del	ENSP00000506854.1:n.*1219_*1233del
ENST00000311895.8:c.1525_1539del MANE Select	ENSP00000310520.7:p.Asp509_Gly513del
ENST00000311895.7:c.1525_1539del	ENSP00000310520.7:p.Asp509_Gly513del
ENST00000389138.7:n.802_816del
NM_005236.2:c.1525_1539del , LRG_463t1:c.1525_1539del	NP_005227.1:p.Asp509_Gly513del
XM_011522424.1:c.1663_1677del	XP_011520726.1:p.Asp555_Gly559del
XM_011522425.1:c.982_996del	XP_011520727.1:p.Asp328_Gly332del
XM_011522426.1:c.736_750del	XP_011520728.1:p.Asp246_Gly250del
XM_011522427.1:c.175_189del	XP_011520729.1:p.Asp59_Gly63del
XR_932805.1:n.1684_1698del
XM_011522424.3:c.1663_1677del	XP_011520726.1:p.Asp555_Gly559del
XM_017023043.2:c.736_750del	XP_016878532.1:p.Asp246_Gly250del
NM_005236.3:c.1525_1539del MANE Select	NP_005227.1:p.Asp509_Gly513del