Canonical Allele Identifier: CA255208077

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs4150250
• gnomAD v2: 13-103498422-CAG-C
• gnomAD v3: 13-102846072-CAG-C
• gnomAD v4: 13-102846072-CAG-C
• MyVariant Identifiers: chr13:g.103498423_103498424del (hg19) ; chr13:g.102846073_102846074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846075_102846076del , CM000675.2:g.102846075_102846076del	GRCh38
NC_000013.10:g.103498425_103498426del , CM000675.1:g.103498425_103498426del	GRCh37
NC_000013.9:g.102296426_102296427del	NCBI36
NG_007146.1:g.5252_5253del , LRG_464:g.5252_5253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.50_51del (ERCC5)
ENST00000682869.1:n.43_44del (ERCC5)
ENST00000683246.1:n.171_172del (ERCC5)
ENST00000684184.1:n.40_41del (ERCC5)
ENST00000638434.1:c.363-7682_363-7681del (BIVM-ERCC5)
ENST00000639118.1:c.363-3043_363-3042del (BIVM-ERCC5)
ENST00000639132.1:c.764-6043_764-6042del (BIVM-ERCC5)	ENSP00000492684.1:n.764-6043_764-6042del
ENST00000639435.1:c.1451-6043_1451-6042del (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6043_1451-6042del
ENST00000651002.1:c.-192_-191del (ERCC5)	ENSP00000498809.1:n.-192_-191del
ENST00000652225.2:c.-192_-191del (ERCC5) MANE Select	ENSP00000498881.2:n.-192_-191del
ENST00000652613.1:c.-689_-688del (ERCC5)	ENSP00000498357.1:n.-689_-688del
ENST00000355739.8:c.-192_-191del (ERCC5)	ENSP00000347978.4:n.-192_-191del
ENST00000472151.1:c.-192_-191del (ERCC5)	ENSP00000436083.1:n.-192_-191del
ENST00000535557.5:c.-192_-191del (ERCC5)	ENSP00000442117.1:n.-192_-191del
ENST00000602836.1:c.1365-6043_1365-6042del (BIVM-ERCC5)
NM_000123.3:c.-192_-191del , LRG_464t1:c.-192_-191del (ERCC5)	NP_000114.2:n.-192_-191del
NM_001204425.1:c.1451-6043_1451-6042del (BIVM-ERCC5)	NP_001191354.1:n.1451-6043_1451-6042del
NM_000123.4:c.-192_-191del (ERCC5) MANE Select	NP_000114.3:n.-192_-191del
NM_001204425.2:c.1451-6043_1451-6042del (BIVM-ERCC5)	NP_001191354.2:n.1451-6043_1451-6042del