Canonical Allele Identifier: CA2115202956
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845529T= , CM000675.2:g.102845529T= GRCh38
NC_000013.10:g.103497879T= , CM000675.1:g.103497879T= GRCh37
NC_000013.9:g.102295880T= NCBI36
NG_007146.1:g.4706T= , LRG_464:g.4706T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8228T= (BIVM-ERCC5)
ENST00000639118.1:c.363-3589T= (BIVM-ERCC5)
ENST00000639132.1:c.763+5726T= (BIVM-ERCC5) ENSP00000492684.1:n.763+5726T=
ENST00000639435.1:c.1450+5726T= (BIVM-ERCC5) ENSP00000491742.1:n.1450+5726T=
ENST00000355739.8:c.-738T= (ERCC5) ENSP00000347978.4:n.-738T=
ENST00000602836.1:c.1364+5726T= (BIVM-ERCC5)
NM_001204425.1:c.1450+5726T= (BIVM-ERCC5) NP_001191354.1:n.1450+5726T=
NM_001204425.2:c.1450+5726T= (BIVM-ERCC5) NP_001191354.2:n.1450+5726T=
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