Canonical Allele Identifier: CA658822525

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530826del , CM000672.2:g.49530826del	GRCh38
NC_000010.10:g.50738872del , CM000672.1:g.50738872del	GRCh37
NC_000010.9:g.50408878del	NCBI36
NG_009442.1:g.13278del , LRG_465:g.13278del

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.439del MANE Select	NP_000115.1:p.Leu147Ter
ENST00000355832.10:c.439del MANE Select	ENSP00000348089.5:p.Leu147Ter
NM_001277058.2:c.439del MANE Plus Clinical	NP_001263987.1:p.Leu147Ter
ENST00000447839.7:c.439del MANE Plus Clinical	ENSP00000387966.2:p.Leu147Ter
NM_000124.3:c.439del	NP_000115.1:p.Leu147Ter
NM_001277058.1:c.439del	NP_001263987.1:p.Leu147Ter
NM_001277059.1:c.439del	NP_001263988.1:p.Leu147Ter
NM_001277059.2:c.439del	NP_001263988.1:p.Leu147Ter
NM_001346440.1:c.439del	NP_001333369.1:p.Leu147Ter
NM_001346440.2:c.439del	NP_001333369.1:p.Leu147Ter
ENST00000355832.9:c.439del	ENSP00000348089.5:p.Leu147Ter
ENST00000447839.6:c.439del	ENSP00000387966.2:p.Leu147Ter
ENST00000462247.1:c.439del	ENSP00000422827.1:p.Leu147Ter
ENST00000515869.1:c.439del	ENSP00000423550.1:p.Leu147Ter
ENST00000679596.1:c.*172+1719del	ENSP00000504862.1:n.*172+1719del
ENST00000679811.1:n.522del
ENST00000680107.1:c.439del	ENSP00000505909.1:p.Leu147Ter
ENST00000680233.1:n.532del
ENST00000681632.1:n.517del
ENST00000681659.1:c.439del	ENSP00000505631.1:p.Leu147Ter