Canonical Allele Identifier: CA882727759
Gene: ERCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1343756912
gnomAD v3: 19-45459465-CAAAT-C
gnomAD v4: 19-45459465-CAAAT-C
MyVariant Identifiers: chr19:g.45962724_45962727del (hg19) chr19:g.45459466_45459469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45459467_45459470del , CM000681.2:g.45459467_45459470del GRCh38
NC_000019.9:g.45962725_45962728del , CM000681.1:g.45962725_45962728del GRCh37
NC_000019.8:g.50654565_50654568del NCBI36
NG_015839.2:g.24360_24363del

Transcript Alleles

HGVS Amino-acid change
ENST00000423698.6:c.-8+19267_-8+19270del ENSP00000394875.2:n.-8+19267_-8+19270del
XM_005258636.3:c.-8+19267_-8+19270del XP_005258693.1:n.-8+19267_-8+19270del
XM_005258636.4:c.-8+19267_-8+19270del XP_005258693.1:n.-8+19267_-8+19270del
XM_017026464.1:c.-8+19267_-8+19270del XP_016881953.1:n.-8+19267_-8+19270del
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