Canonical Allele Identifier: CA666035845

Gene: ERCC6

Linked Data

• dbSNP Id: rs1475256493
• gnomAD v3: 10-49471053-AT-A
• gnomAD v4: 10-49471053-AT-A
• MyVariant Identifiers: chr10:g.50679100del (hg19) ; chr10:g.49471054del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471056del , CM000672.2:g.49471056del	GRCh38
NC_000010.10:g.50679102del , CM000672.1:g.50679102del	GRCh37
NC_000010.9:g.50349108del	NCBI36
NG_009442.1:g.73048del , LRG_465:g.73048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2991del MANE Select	ENSP00000348089.5:p.Lys997AsnfsTer11
ENST00000679552.1:n.142-165del
ENST00000679871.1:n.137del
ENST00000679974.1:n.120-165del
ENST00000681632.1:n.4394del
ENST00000681659.1:c.2832del	ENSP00000505631.1:p.Lys944AsnfsTer11
ENST00000355832.9:c.2991del	ENSP00000348089.5:p.Lys997AsnfsTer11
ENST00000623073.3:c.*1287del	ENSP00000485650.1:n.*1287del
ENST00000623115.3:c.1101del	ENSP00000485321.1:p.Lys367AsnfsTer11
ENST00000624341.3:c.823del
NM_000124.3:c.2991del	NP_000115.1:p.Lys997AsnfsTer11
XR_945953.1:n.243-509del
NM_001346440.1:c.2991del	NP_001333369.1:p.Lys997AsnfsTer11
NM_000124.4:c.2991del MANE Select	NP_000115.1:p.Lys997AsnfsTer11
NM_001346440.2:c.2991del	NP_001333369.1:p.Lys997AsnfsTer11