Canonical Allele Identifier: CA2582196097
Gene: ERCC1 HGNC NCBI

Linked Data

dbSNP Id: rs2123651395
gnomAD v3: 19-45459459-AAT-A
gnomAD v4: 19-45459459-AAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45459461_45459462del , CM000681.2:g.45459461_45459462del GRCh38
NC_000019.9:g.45962719_45962720del , CM000681.1:g.45962719_45962720del GRCh37
NC_000019.8:g.50654559_50654560del NCBI36
NG_015839.2:g.24368_24369del

Transcript Alleles

HGVS Amino-acid change
ENST00000423698.6:c.-8+19275_-8+19276del ENSP00000394875.2:n.-8+19275_-8+19276del
XM_005258636.3:c.-8+19275_-8+19276del XP_005258693.1:n.-8+19275_-8+19276del
XM_005258636.4:c.-8+19275_-8+19276del XP_005258693.1:n.-8+19275_-8+19276del
XM_017026464.1:c.-8+19275_-8+19276del XP_016881953.1:n.-8+19275_-8+19276del
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