Canonical Allele Identifier: CA593780551

Gene: ERCC6

Linked Data

• dbSNP Id: rs1420420583
• gnomAD v2: 10-50669533-TCCA-T
• gnomAD v4: 10-49461487-TCCA-T
• MyVariant Identifiers: chr10:g.50669534_50669536del (hg19) ; chr10:g.49461488_49461490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461491_49461493del , CM000672.2:g.49461491_49461493del	GRCh38
NC_000010.10:g.50669537_50669539del , CM000672.1:g.50669537_50669539del	GRCh37
NC_000010.9:g.50339543_50339545del	NCBI36
NG_009442.1:g.82612_82614del , LRG_465:g.82612_82614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3845_3847del MANE Select	ENSP00000348089.5:p.Val1282del
ENST00000679552.1:n.916_918del
ENST00000679871.1:n.991_993del
ENST00000679974.1:n.894_896del
ENST00000681632.1:n.5248_5250del
ENST00000681659.1:c.3686_3688del	ENSP00000505631.1:p.Val1229del
ENST00000355832.9:c.3845_3847del	ENSP00000348089.5:p.Val1282del
ENST00000465653.1:n.167_169del
ENST00000623073.3:c.*2141_*2143del	ENSP00000485650.1:n.*2141_*2143del
ENST00000623115.3:c.1955_1957del	ENSP00000485321.1:p.Val652del
ENST00000624341.3:c.1677_1679del
NM_000124.3:c.3845_3847del	NP_000115.1:p.Val1282del
XR_945953.1:n.243-10074_243-10072del
NM_001346440.1:c.3845_3847del	NP_001333369.1:p.Val1282del
NM_000124.4:c.3845_3847del MANE Select	NP_000115.1:p.Val1282del
NM_001346440.2:c.3845_3847del	NP_001333369.1:p.Val1282del