Canonical Allele Identifier: CA1139666485
Gene: ERCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 981245
ClinVar RCV Id: RCV001260593

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45418968_45421119del , CM000681.2:g.45418968_45421119del GRCh38
NC_000019.9:g.45922226_45924377del , CM000681.1:g.45922226_45924377del GRCh37
NC_000019.8:g.50614066_50616217del NCBI36
NG_015839.2:g.62712_64863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710953.1:c.321+61_322-2073del ENSP00000518553.1:n.321+61_322-2073del
ENST00000300853.8:c.321+61_525+132del
ENST00000013807.9:c.321+61_525+132del
ENST00000300853.7:c.321+61_525+132del
ENST00000340192.11:c.321+61_525+132del
ENST00000423698.6:c.106-690_309+132del
ENST00000588300.1:n.444+61_648+132del
ENST00000589165.5:c.321+61_525+132del
ENST00000589381.5:c.106-690_309+132del
ENST00000591636.5:c.321+61_525+132del
ENST00000592023.5:c.321+61_525+132del
ENST00000592083.5:c.321+61_525+132del
ENST00000592905.5:n.378+61_582+132del
NM_001166049.1:c.321+61_525+132del
NM_001983.3:c.321+61_525+132del
NM_202001.2:c.321+61_525+132del
XM_005258634.1:c.321+61_525+132del
XM_005258635.2:c.321+61_525+132del
XM_005258636.3:c.321+61_525+132del
XM_005258637.1:c.321+61_525+132del
XM_011526610.1:c.321+61_525+132del
XM_005258636.4:c.321+61_525+132del
XM_011526610.2:c.321+61_525+132del
XM_017026459.1:c.321+61_525+132del
XM_017026460.2:c.321+61_525+132del
XM_017026461.1:c.321+61_525+132del
XM_017026462.1:c.321+61_525+132del
XM_017026463.1:c.321+61_525+132del
XM_017026464.1:c.321+61_525+132del
XM_017026465.1:c.321+61_525+132del
XM_017026466.1:c.321+61_525+132del
XR_001753631.1:n.398+61_602+132del
XR_001753632.1:n.868+61_1072+132del
NM_001166049.2:c.321+61_525+132del
NM_001369408.1:c.321+61_525+132del
NM_001369409.1:c.321+61_525+132del
NM_001369410.1:c.321+61_525+132del
NM_001369411.1:c.321+61_525+132del
NM_001369412.1:c.321+61_525+132del
NM_001369413.1:c.321+61_525+132del
NM_001369414.1:c.321+61_525+132del
NM_001369415.1:c.321+61_525+132del
NM_001369416.1:c.321+61_525+132del
NM_001369417.1:c.321+61_525+132del
NM_001369418.1:c.321+61_525+132del
NM_001369419.1:c.321+61_525+132del
NM_001983.4:c.321+61_525+132del
NM_202001.3:c.321+61_525+132del