Canonical Allele Identifier: CA2739265354

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2863120
• ClinVar RCV Id: RCV003700145

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524650_49524660del , CM000672.2:g.49524650_49524660del	GRCh38
NC_000010.10:g.50732696_50732706del , CM000672.1:g.50732696_50732706del	GRCh37
NC_000010.9:g.50402702_50402712del	NCBI36
NG_009442.1:g.19449_19459del , LRG_465:g.19449_19459del
NG_033155.1:g.4629_4639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.777_787del MANE Select	ENSP00000348089.5:p.Lys259AsnfsTer4
ENST00000447839.7:c.777_787del MANE Plus Clinical	ENSP00000387966.2:p.Lys259AsnfsTer4
ENST00000679596.1:c.*406_*416del	ENSP00000504862.1:n.*406_*416del
ENST00000679811.1:n.860_870del
ENST00000680107.1:c.652+3764_652+3774del	ENSP00000505909.1:n.652+3764_652+3774del
ENST00000680233.1:n.870_880del
ENST00000681632.1:n.855_865del
ENST00000681659.1:c.777_787del	ENSP00000505631.1:p.Lys259AsnfsTer4
ENST00000355832.9:c.777_787del	ENSP00000348089.5:p.Lys259AsnfsTer4
ENST00000447839.6:c.777_787del	ENSP00000387966.2:p.Lys259AsnfsTer4
ENST00000515869.1:c.777_787del	ENSP00000423550.1:p.Lys259AsnfsTer4
NM_000124.3:c.777_787del	NP_000115.1:p.Lys259AsnfsTer4
NM_001277058.1:c.777_787del	NP_001263987.1:p.Lys259AsnfsTer4
NM_001277059.1:c.777_787del	NP_001263988.1:p.Lys259AsnfsTer4
NM_001346440.1:c.777_787del	NP_001333369.1:p.Lys259AsnfsTer4
NM_000124.4:c.777_787del MANE Select	NP_000115.1:p.Lys259AsnfsTer4
NM_001277058.2:c.777_787del MANE Plus Clinical	NP_001263987.1:p.Lys259AsnfsTer4
NM_001277059.2:c.777_787del	NP_001263988.1:p.Lys259AsnfsTer4
NM_001346440.2:c.777_787del	NP_001333369.1:p.Lys259AsnfsTer4