Canonical Allele Identifier: CA5495324

Gene: ERCC6

Linked Data

• dbSNP Id: rs764246480
• ExAC: 10:50678441 TATG / T
• gnomAD v2: 10-50678441-TATG-T
• MyVariant Identifiers: chr10:g.50678442_50678444del (hg19) ; chr10:g.49470396_49470398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470399_49470401del , CM000672.2:g.49470399_49470401del	GRCh38
NC_000010.10:g.50678445_50678447del , CM000672.1:g.50678445_50678447del	GRCh37
NC_000010.9:g.50348451_50348453del	NCBI36
NG_009442.1:g.73704_73706del , LRG_465:g.73704_73706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3562_3564del MANE Select	ENSP00000348089.5:p.His1188del
ENST00000679552.1:n.633_635del
ENST00000679871.1:n.708_710del
ENST00000679974.1:n.611_613del
ENST00000681632.1:n.4965_4967del
ENST00000681659.1:c.3403_3405del	ENSP00000505631.1:p.His1135del
ENST00000355832.9:c.3562_3564del	ENSP00000348089.5:p.His1188del
ENST00000623073.3:c.*1858_*1860del	ENSP00000485650.1:n.*1858_*1860del
ENST00000623115.3:c.1672_1674del	ENSP00000485321.1:p.His558del
ENST00000624341.3:c.1394_1396del
NM_000124.3:c.3562_3564del	NP_000115.1:p.His1188del
XR_945953.1:n.243-1166_243-1164del
NM_001346440.1:c.3562_3564del	NP_001333369.1:p.His1188del
NM_000124.4:c.3562_3564del MANE Select	NP_000115.1:p.His1188del
NM_001346440.2:c.3562_3564del	NP_001333369.1:p.His1188del