Canonical Allele Identifier: CA5495333

Gene: ERCC6

Linked Data

• dbSNP Id: rs751679682
• ExAC: 10:50678476 T / TCAGG
• gnomAD v2: 10-50678476-T-TCAGG
• MyVariant Identifiers: chr10:g.50678476_50678477insCAGG (hg19) ; chr10:g.49470430_49470431insCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470430_49470431insCAGG , CM000672.2:g.49470430_49470431insCAGG	GRCh38
NC_000010.10:g.50678476_50678477insCAGG , CM000672.1:g.50678476_50678477insCAGG	GRCh37
NC_000010.9:g.50348482_50348483insCAGG	NCBI36
NG_009442.1:g.73671_73672insCCTG , LRG_465:g.73671_73672insCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3529_3530insCCTG MANE Select	ENSP00000348089.5:p.Asn1177ThrfsTer2
ENST00000679552.1:n.600_601insCCTG
ENST00000679871.1:n.675_676insCCTG
ENST00000679974.1:n.578_579insCCTG
ENST00000681632.1:n.4932_4933insCCTG
ENST00000681659.1:c.3370_3371insCCTG	ENSP00000505631.1:p.Asn1124ThrfsTer2
ENST00000355832.9:c.3529_3530insCCTG	ENSP00000348089.5:p.Asn1177ThrfsTer2
ENST00000623073.3:c.*1825_*1826insCCTG	ENSP00000485650.1:n.*1825_*1826insCCTG
ENST00000623115.3:c.1639_1640insCCTG	ENSP00000485321.1:p.Asn547ThrfsTer2
ENST00000624341.3:c.1361_1362insCCTG
NM_000124.3:c.3529_3530insCCTG	NP_000115.1:p.Asn1177ThrfsTer2
XR_945953.1:n.243-1135_243-1134insCAGG
NM_001346440.1:c.3529_3530insCCTG	NP_001333369.1:p.Asn1177ThrfsTer2
NM_000124.4:c.3529_3530insCCTG MANE Select	NP_000115.1:p.Asn1177ThrfsTer2
NM_001346440.2:c.3529_3530insCCTG	NP_001333369.1:p.Asn1177ThrfsTer2