Canonical Allele Identifier: CA3277855

Gene: ERCC8

Linked Data

• dbSNP Id: rs770131914
• ExAC: 5:60200720 T / TAA
• gnomAD v2: 5-60200720-T-TAA
• gnomAD v3: 5-60904893-T-TAA
• gnomAD v4: 5-60904893-T-TAA
• MyVariant Identifiers: chr5:g.60200720_60200721insAA (hg19) ; chr5:g.60904893_60904894insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60904897_60904898dup , CM000667.2:g.60904897_60904898dup	GRCh38
NC_000005.9:g.60200724_60200725dup , CM000667.1:g.60200724_60200725dup	GRCh37
NC_000005.8:g.60236481_60236482dup	NCBI36
NG_009289.1:g.45184_45185dup , LRG_466:g.45184_45185dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000439176.6:c.400-22_400-21dup	ENSP00000408344.2:n.400-22_400-21dup
ENST00000647431.2:c.501-22_501-21dup	ENSP00000494726.2:n.501-22_501-21dup
ENST00000647486.2:c.400-22_400-21dup	ENSP00000494466.2:n.400-22_400-21dup
ENST00000675042.2:c.226-22_226-21dup	ENSP00000502082.2:n.226-22_226-21dup
ENST00000675452.2:c.*365-22_*365-21dup	ENSP00000506954.1:n.*365-22_*365-21dup
ENST00000682217.1:c.400-22_400-21dup	ENSP00000507570.1:n.400-22_400-21dup
ENST00000682246.1:n.456-22_456-21dup
ENST00000682375.1:c.*230-22_*230-21dup	ENSP00000507551.1:n.*230-22_*230-21dup
ENST00000683052.1:c.202-22_202-21dup	ENSP00000507072.1:n.202-22_202-21dup
ENST00000683199.1:n.422-22_422-21dup
ENST00000683216.1:n.643_644dup
ENST00000683460.1:c.*230-22_*230-21dup	ENSP00000507820.1:n.*230-22_*230-21dup
ENST00000684394.1:n.455-22_455-21dup
ENST00000684453.1:n.450-22_450-21dup
ENST00000684621.1:n.456-22_456-21dup
ENST00000265038.10:c.400-22_400-21dup	ENSP00000265038.6:n.400-22_400-21dup
ENST00000497892.6:c.*198-22_*198-21dup	ENSP00000501805.1:n.*198-22_*198-21dup
ENST00000643034.1:c.*292-22_*292-21dup	ENSP00000496080.1:n.*292-22_*292-21dup
ENST00000643708.1:c.*230-22_*230-21dup	ENSP00000494199.1:n.*230-22_*230-21dup
ENST00000647431.1:c.452-22_452-21dup
ENST00000647486.1:c.351-22_351-21dup
ENST00000675042.1:c.226-22_226-21dup	ENSP00000502082.1:n.226-22_226-21dup
ENST00000675229.1:c.400-22_400-21dup	ENSP00000502154.1:n.400-22_400-21dup
ENST00000675378.1:c.400-22_400-21dup	ENSP00000502535.1:n.400-22_400-21dup
ENST00000675452.1:n.649-22_649-21dup
ENST00000675920.1:n.1008-22_1008-21dup
ENST00000676185.1:c.400-22_400-21dup MANE Select	ENSP00000501614.1:n.400-22_400-21dup
ENST00000265038.9:c.400-22_400-21dup	ENSP00000265038.5:n.400-22_400-21dup
ENST00000381118.7:c.*444-22_*444-21dup	ENSP00000370510.3:n.*444-22_*444-21dup
ENST00000439176.5:c.226-22_226-21dup	ENSP00000408344.1:n.226-22_226-21dup
ENST00000462279.5:n.245-22_245-21dup
ENST00000484330.5:n.227-2387_227-2386dup
ENST00000495985.5:n.173-22_173-21dup
ENST00000497892.5:n.443-22_443-21dup
NM_000082.3:c.400-22_400-21dup , LRG_466t1:c.400-22_400-21dup	NP_000073.1:n.400-22_400-21dup
NM_001007233.2:c.226-22_226-21dup	NP_001007234.1:n.226-22_226-21dup
NM_001007234.2:c.400-22_400-21dup	NP_001007235.1:n.400-22_400-21dup
NM_001290285.1:c.23-1179_23-1178dup	NP_001277214.1:n.23-1179_23-1178dup
NM_001007234.3:c.400-22_400-21dup	NP_001007235.1:n.400-22_400-21dup
NM_000082.4:c.400-22_400-21dup MANE Select	NP_000073.1:n.400-22_400-21dup
NM_001007233.3:c.226-22_226-21dup	NP_001007234.1:n.226-22_226-21dup
NM_001290285.2:c.23-1179_23-1178dup	NP_001277214.1:n.23-1179_23-1178dup