Canonical Allele Identifier: CA2832528728

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357369_45357400del , CM000681.2:g.45357369_45357400del	GRCh38
NC_000019.9:g.45860627_45860658del , CM000681.1:g.45860627_45860658del	GRCh37
NC_000019.8:g.50552467_50552498del	NCBI36
NG_007067.2:g.18191_18222del , LRG_461:g.18191_18222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1378-26_1383del
ENST00000682414.1:c.1378-26_1383del
ENST00000682508.1:n.1407-26_1412del
ENST00000684218.1:c.*636-26_*641del
ENST00000684264.1:n.934-26_939del
ENST00000684407.1:c.1255-26_1260del
ENST00000684458.1:c.1308-26_1313del
ENST00000684468.1:n.1154-26_1159del
ENST00000391945.10:c.1378-26_1383del
ENST00000587376.6:c.501-26_506del
ENST00000646507.1:n.1475-26_1480del
ENST00000391941.6:c.1306-26_1311del
ENST00000391942.6:n.549-26_554del
ENST00000391944.7:c.1144-26_1149del
ENST00000391945.8:c.1378-26_1383del
ENST00000587376.5:c.501-26_506del
ENST00000588652.5:n.1466-26_1471del
NM_000400.3:c.1378-26_1383del , LRG_461t1:c.1378-26_1383del
XM_011526611.1:c.1300-26_1305del
XR_935763.1:n.1425-26_1430del
XM_011526611.2:c.1300-26_1305del
XM_017026467.1:c.1255-26_1260del
XR_001753633.2:n.1425-26_1430del
XR_001753634.2:n.1425-26_1430del
NM_000400.4:c.1378-26_1383del