Canonical Allele Identifier: CA2115203108
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845769_102845770delinsGA , CM000675.2:g.102845769_102845770delinsGA GRCh38
NC_000013.10:g.103498119_103498120delinsGA , CM000675.1:g.103498119_103498120delinsGA GRCh37
NC_000013.9:g.102296120_102296121delinsGA NCBI36
NG_007146.1:g.4946_4947delinsGA , LRG_464:g.4946_4947delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7988_363-7987delinsGA (BIVM-ERCC5)
ENST00000639118.1:c.363-3349_363-3348delinsGA (BIVM-ERCC5)
ENST00000639132.1:c.763+5966_763+5967delinsGA (BIVM-ERCC5) ENSP00000492684.1:n.763+5966_763+5967delinsGA
ENST00000639435.1:c.1450+5966_1450+5967delinsGA (BIVM-ERCC5) ENSP00000491742.1:n.1450+5966_1450+5967delinsGA
ENST00000355739.8:c.-498_-497delinsGA (ERCC5) ENSP00000347978.4:n.-498_-497delinsGA
ENST00000602836.1:c.1364+5966_1364+5967delinsGA (BIVM-ERCC5)
NM_001204425.1:c.1450+5966_1450+5967delinsGA (BIVM-ERCC5) NP_001191354.1:n.1450+5966_1450+5967delinsGA
NM_001204425.2:c.1450+5966_1450+5967delinsGA (BIVM-ERCC5) NP_001191354.2:n.1450+5966_1450+5967delinsGA
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