Canonical Allele Identifier: CA2580081562

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470725_49470726del , CM000672.2:g.49470725_49470726del	GRCh38
NC_000010.10:g.50678771_50678772del , CM000672.1:g.50678771_50678772del	GRCh37
NC_000010.9:g.50348777_50348778del	NCBI36
NG_009442.1:g.73376_73377del , LRG_465:g.73376_73377del

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3234_3235del MANE Select	NP_000115.1:p.Glu1079SerfsTer7
ENST00000355832.10:c.3234_3235del MANE Select	ENSP00000348089.5:p.Glu1079SerfsTer7
NM_000124.3:c.3234_3235del	NP_000115.1:p.Glu1079SerfsTer7
NM_001346440.1:c.3234_3235del	NP_001333369.1:p.Glu1079SerfsTer7
NM_001346440.2:c.3234_3235del	NP_001333369.1:p.Glu1079SerfsTer7
ENST00000355832.9:c.3234_3235del	ENSP00000348089.5:p.Glu1079SerfsTer7
ENST00000623073.3:c.*1530_*1531del	ENSP00000485650.1:n.*1530_*1531del
ENST00000623115.3:c.1344_1345del	ENSP00000485321.1:p.Glu449SerfsTer7
ENST00000624341.3:c.1066_1067del
ENST00000679552.1:n.305_306del
ENST00000679871.1:n.380_381del
ENST00000679974.1:n.283_284del
ENST00000681632.1:n.4637_4638del
ENST00000681659.1:c.3075_3076del	ENSP00000505631.1:p.Glu1026SerfsTer7
XR_945953.1:n.243-840_243-839del