Canonical Allele Identifier: CA255207938
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1039152246
gnomAD v3: 13-102846023-CCTGT-C
gnomAD v4: 13-102846023-CCTGT-C
MyVariant Identifiers: chr13:g.103498374_103498377del (hg19) chr13:g.102846024_102846027del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102846026_102846029del , CM000675.2:g.102846026_102846029del GRCh38
NC_000013.10:g.103498376_103498379del , CM000675.1:g.103498376_103498379del GRCh37
NC_000013.9:g.102296377_102296380del NCBI36
NG_007146.1:g.5203_5206del , LRG_464:g.5203_5206del

Transcript Alleles

HGVS Amino-acid change
ENST00000683246.1:n.122_125del (ERCC5)
ENST00000638434.1:c.363-7731_363-7728del (BIVM-ERCC5)
ENST00000639118.1:c.363-3092_363-3089del (BIVM-ERCC5)
ENST00000639132.1:c.764-6092_764-6089del (BIVM-ERCC5) ENSP00000492684.1:n.764-6092_764-6089del
ENST00000639435.1:c.1451-6092_1451-6089del (BIVM-ERCC5) ENSP00000491742.1:n.1451-6092_1451-6089de...
ENST00000651002.1:c.-241_-238del (ERCC5) ENSP00000498809.1:n.-241_-238del
ENST00000652613.1:c.-738_-735del (ERCC5) ENSP00000498357.1:n.-738_-735del
ENST00000355739.8:c.-241_-238del (ERCC5) ENSP00000347978.4:n.-241_-238del
ENST00000535557.5:c.-241_-238del (ERCC5) ENSP00000442117.1:n.-241_-238del
ENST00000602836.1:c.1365-6092_1365-6089del (BIVM-ERCC5)
NM_000123.3:c.-241_-238del , LRG_464t1:c.-241_-238del (ERCC5) NP_000114.2:n.-241_-238del
NM_001204425.1:c.1451-6092_1451-6089del (BIVM-ERCC5) NP_001191354.1:n.1451-6092_1451-6089del
NM_001204425.2:c.1451-6092_1451-6089del (BIVM-ERCC5) NP_001191354.2:n.1451-6092_1451-6089del
Search 100 bp 5'
Search 100 bp 3'