Canonical Allele Identifier: CA2695211994

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461389del , CM000672.2:g.49461389del	GRCh38
NC_000010.10:g.50669435del , CM000672.1:g.50669435del	GRCh37
NC_000010.9:g.50339441del	NCBI36
NG_009442.1:g.82714del , LRG_465:g.82714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3947del MANE Select	ENSP00000348089.5:p.Gly1316AlafsTer?
ENST00000679552.1:n.1018del
ENST00000679871.1:n.1093del
ENST00000679974.1:n.996del
ENST00000681632.1:n.5350del
ENST00000681659.1:c.3788del	ENSP00000505631.1:p.Gly1263AlafsTer?
ENST00000355832.9:c.3947del	ENSP00000348089.5:p.Gly1316AlafsTer?
ENST00000465653.1:n.269del
ENST00000623073.3:c.*2243del	ENSP00000485650.1:n.*2243del
ENST00000623115.3:c.2057del	ENSP00000485321.1:p.Gly686AlafsTer?
ENST00000624341.3:c.1779del
NM_000124.3:c.3947del	NP_000115.1:p.Gly1316AlafsTer?
XR_945953.1:n.243-10176del
NM_001346440.1:c.3947del	NP_001333369.1:p.Gly1316AlafsTer?
NM_000124.4:c.3947del MANE Select	NP_000115.1:p.Gly1316AlafsTer?
NM_001346440.2:c.3947del	NP_001333369.1:p.Gly1316AlafsTer?