Canonical Allele Identifier: CA2574454432

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471075del , CM000672.2:g.49471075del	GRCh38
NC_000010.10:g.50679121del , CM000672.1:g.50679121del	GRCh37
NC_000010.9:g.50349127del	NCBI36
NG_009442.1:g.73030del , LRG_465:g.73030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2973del MANE Select	ENSP00000348089.5:p.Lys991AsnfsTer17
ENST00000679552.1:n.142-183del
ENST00000679871.1:n.119del
ENST00000679974.1:n.120-183del
ENST00000681632.1:n.4376del
ENST00000681659.1:c.2814del	ENSP00000505631.1:p.Lys938AsnfsTer17
ENST00000355832.9:c.2973del	ENSP00000348089.5:p.Lys991AsnfsTer17
ENST00000623073.3:c.*1269del	ENSP00000485650.1:n.*1269del
ENST00000623115.3:c.1083del	ENSP00000485321.1:p.Lys361AsnfsTer17
ENST00000624341.3:c.805del
NM_000124.3:c.2973del	NP_000115.1:p.Lys991AsnfsTer17
XR_945953.1:n.243-490del
NM_001346440.1:c.2973del	NP_001333369.1:p.Lys991AsnfsTer17
NM_000124.4:c.2973del MANE Select	NP_000115.1:p.Lys991AsnfsTer17
NM_001346440.2:c.2973del	NP_001333369.1:p.Lys991AsnfsTer17