Canonical Allele Identifier: CA2115202987
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845584G= , CM000675.2:g.102845584G= GRCh38
NC_000013.10:g.103497934G= , CM000675.1:g.103497934G= GRCh37
NC_000013.9:g.102295935G= NCBI36
NG_007146.1:g.4761G= , LRG_464:g.4761G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8173G= (BIVM-ERCC5)
ENST00000639118.1:c.363-3534G= (BIVM-ERCC5)
ENST00000639132.1:c.763+5781G= (BIVM-ERCC5) ENSP00000492684.1:n.763+5781G=
ENST00000639435.1:c.1450+5781G= (BIVM-ERCC5) ENSP00000491742.1:n.1450+5781G=
ENST00000355739.8:c.-683G= (ERCC5) ENSP00000347978.4:n.-683G=
ENST00000602836.1:c.1364+5781G= (BIVM-ERCC5)
NM_001204425.1:c.1450+5781G= (BIVM-ERCC5) NP_001191354.1:n.1450+5781G=
NM_001204425.2:c.1450+5781G= (BIVM-ERCC5) NP_001191354.2:n.1450+5781G=
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