Canonical Allele Identifier: CA2623614904

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875559-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875562_102875563del , CM000675.2:g.102875562_102875563del	GRCh38
NC_000013.10:g.103527912_103527913del , CM000675.1:g.103527912_103527913del	GRCh37
NC_000013.9:g.102325913_102325914del	NCBI36
NG_007146.1:g.34739_34740del , LRG_464:g.34739_34740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4321_4322del (ERCC5)
ENST00000682869.1:n.3869_3870del (ERCC5)
ENST00000683246.1:n.4857_4858del (ERCC5)
ENST00000683642.1:n.3450_3451del (ERCC5)
ENST00000639132.1:c.3895_3896del (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1299AlafsTer5
ENST00000639435.1:c.4582_4583del (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1528AlafsTer5
ENST00000651002.1:c.*2981_*2982del (ERCC5)	ENSP00000498809.1:n.*2981_*2982del
ENST00000651055.1:n.3347_3348del (ERCC5)
ENST00000651281.1:n.3588_3589del (ERCC5)
ENST00000651387.1:n.2704_2705del (ERCC5)
ENST00000651470.1:c.*392_*393del (ERCC5)	ENSP00000498701.1:n.*392_*393del
ENST00000652225.2:c.3220_3221del (ERCC5) MANE Select	ENSP00000498881.2:p.Arg1074AlafsTer5
ENST00000652613.1:c.2716_2717del (ERCC5)	ENSP00000498357.1:p.Arg906AlafsTer5
ENST00000355739.8:c.3220_3221del (ERCC5)	ENSP00000347978.4:p.Arg1074AlafsTer5
ENST00000375954.1:c.919_920del (ERCC5)	ENSP00000365121.1:p.Arg307AlafsTer5
ENST00000472247.1:n.380_381del (ERCC5)
ENST00000610537.4:c.3217_3218del (ERCC5)	ENSP00000478667.1:p.Arg1073AlafsTer5
NM_000123.3:c.3220_3221del , LRG_464t1:c.3220_3221del (ERCC5)	NP_000114.2:p.Arg1074AlafsTer5
NM_001204425.1:c.4582_4583del (BIVM-ERCC5)	NP_001191354.1:p.Arg1528AlafsTer5
NM_000123.4:c.3220_3221del (ERCC5) MANE Select	NP_000114.3:p.Arg1074AlafsTer5
NM_001204425.2:c.4582_4583del (BIVM-ERCC5)	NP_001191354.2:p.Arg1528AlafsTer5