Canonical Allele Identifier: CA2787928745

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470490_49470495del , CM000672.2:g.49470490_49470495del	GRCh38
NC_000010.10:g.50678536_50678541del , CM000672.1:g.50678536_50678541del	GRCh37
NC_000010.9:g.50348542_50348547del	NCBI36
NG_009442.1:g.73607_73612del , LRG_465:g.73607_73612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3465_3470del MANE Select	ENSP00000348089.5:p.Tyr1155Ter
ENST00000679552.1:n.536_541del
ENST00000679871.1:n.611_616del
ENST00000679974.1:n.514_519del
ENST00000681632.1:n.4868_4873del
ENST00000681659.1:c.3306_3311del	ENSP00000505631.1:p.Tyr1102Ter
ENST00000355832.9:c.3465_3470del	ENSP00000348089.5:p.Tyr1155Ter
ENST00000623073.3:c.*1761_*1766del	ENSP00000485650.1:n.*1761_*1766del
ENST00000623115.3:c.1575_1580del	ENSP00000485321.1:p.Tyr525Ter
ENST00000624341.3:c.1297_1302del
NM_000124.3:c.3465_3470del	NP_000115.1:p.Tyr1155Ter
XR_945953.1:n.243-1075_243-1070del
NM_001346440.1:c.3465_3470del	NP_001333369.1:p.Tyr1155Ter
NM_000124.4:c.3465_3470del MANE Select	NP_000115.1:p.Tyr1155Ter
NM_001346440.2:c.3465_3470del	NP_001333369.1:p.Tyr1155Ter