Canonical Allele Identifier: CA913189901

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 632138
• ClinVar RCV Id: RCV000779030
• dbSNP Id: rs1564725879

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461486del , CM000672.2:g.49461486del	GRCh38
NC_000010.10:g.50669532del , CM000672.1:g.50669532del	GRCh37
NC_000010.9:g.50339538del	NCBI36
NG_009442.1:g.82617del , LRG_465:g.82617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3850del MANE Select	ENSP00000348089.5:p.Ala1284GlnfsTer11
ENST00000679552.1:n.921del
ENST00000679871.1:n.996del
ENST00000679974.1:n.899del
ENST00000681632.1:n.5253del
ENST00000681659.1:c.3691del	ENSP00000505631.1:p.Ala1231GlnfsTer11
ENST00000355832.9:c.3850del	ENSP00000348089.5:p.Ala1284GlnfsTer11
ENST00000465653.1:n.172del
ENST00000623073.3:c.*2146del	ENSP00000485650.1:n.*2146del
ENST00000623115.3:c.1960del	ENSP00000485321.1:p.Ala654GlnfsTer11
ENST00000624341.3:c.1682del
NM_000124.3:c.3850del	NP_000115.1:p.Ala1284GlnfsTer11
XR_945953.1:n.243-10079del
NM_001346440.1:c.3850del	NP_001333369.1:p.Ala1284GlnfsTer11
NM_000124.4:c.3850del MANE Select	NP_000115.1:p.Ala1284GlnfsTer11
NM_001346440.2:c.3850del	NP_001333369.1:p.Ala1284GlnfsTer11