Canonical Allele Identifier: CA2623612860
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102845822-ACGGAAAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845825_102845831del , CM000675.2:g.102845825_102845831del GRCh38
NC_000013.10:g.103498175_103498181del , CM000675.1:g.103498175_103498181del GRCh37
NC_000013.9:g.102296176_102296182del NCBI36
NG_007146.1:g.5002_5008del , LRG_464:g.5002_5008del

Transcript Alleles

HGVS Amino-acid change
ENST00000638434.1:c.363-7932_363-7926del (BIVM-ERCC5)
ENST00000639118.1:c.363-3293_363-3287del (BIVM-ERCC5)
ENST00000639132.1:c.763+6022_763+6028del (BIVM-ERCC5) ENSP00000492684.1:n.763+6022_763+6028del
ENST00000639435.1:c.1450+6022_1450+6028del (BIVM-ERCC5) ENSP00000491742.1:n.1450+6022_1450+6028del
ENST00000355739.8:c.-442_-436del (ERCC5) ENSP00000347978.4:n.-442_-436del
ENST00000602836.1:c.1364+6022_1364+6028del (BIVM-ERCC5)
NM_001204425.1:c.1450+6022_1450+6028del (BIVM-ERCC5) NP_001191354.1:n.1450+6022_1450+6028del
NM_001204425.2:c.1450+6022_1450+6028del (BIVM-ERCC5) NP_001191354.2:n.1450+6022_1450+6028del
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