Canonical Allele Identifier: CA2580081566

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524392del , CM000672.2:g.49524392del	GRCh38
NC_000010.10:g.50732438del , CM000672.1:g.50732438del	GRCh37
NC_000010.9:g.50402444del	NCBI36
NG_009442.1:g.19712del , LRG_465:g.19712del
NG_033155.1:g.4892del

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1040del MANE Select	NP_000115.1:p.Gly347AspfsTer13
ENST00000355832.10:c.1040del MANE Select	ENSP00000348089.5:p.Gly347AspfsTer13
NM_001277058.2:c.1040del MANE Plus Clinical	NP_001263987.1:p.Gly347AspfsTer13
ENST00000447839.7:c.1040del MANE Plus Clinical	ENSP00000387966.2:p.Gly347AspfsTer13
NM_000124.3:c.1040del	NP_000115.1:p.Gly347AspfsTer13
NM_001277058.1:c.1040del	NP_001263987.1:p.Gly347AspfsTer13
NM_001277059.1:c.1040del	NP_001263988.1:p.Gly347AspfsTer13
NM_001277059.2:c.1040del	NP_001263988.1:p.Gly347AspfsTer13
NM_001346440.1:c.1040del	NP_001333369.1:p.Gly347AspfsTer13
NM_001346440.2:c.1040del	NP_001333369.1:p.Gly347AspfsTer13
ENST00000355832.9:c.1040del	ENSP00000348089.5:p.Gly347AspfsTer13
ENST00000447839.6:c.1040del	ENSP00000387966.2:p.Gly347AspfsTer13
ENST00000515869.1:c.1040del	ENSP00000423550.1:p.Gly347AspfsTer13
ENST00000679596.1:c.*669del	ENSP00000504862.1:n.*669del
ENST00000679811.1:n.1123del
ENST00000680107.1:c.652+4027del	ENSP00000505909.1:n.652+4027del
ENST00000680233.1:n.1133del
ENST00000681632.1:n.1118del
ENST00000681659.1:c.1040del	ENSP00000505631.1:p.Gly347AspfsTer13