Canonical Allele Identifier: CA1908772476

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493127_49493144delinsGTATAGGAACCGGTTTCA , CM000672.2:g.49493127_49493144delinsGTATAGGAACCGGTTTCA	GRCh38
NC_000010.10:g.50701173_50701190delinsGTATAGGAACCGGTTTCA , CM000672.1:g.50701173_50701190delinsGTATAGGAACCGGTTTCA	GRCh37
NC_000010.9:g.50371179_50371196delinsGTATAGGAACCGGTTTCA	NCBI36
NG_009442.1:g.50958_50975delinsTGAAACCGGTTCCTATAC , LRG_465:g.50958_50975delinsTGAAACCGGTTCCTATAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1794_1811delinsTGAAACCGGTTCCTATAC MANE Select	ENSP00000348089.5:p.His598=
ENST00000681632.1:n.1872_1889delinsTGAAACCGGTTCCTATAC
ENST00000681659.1:c.1635_1652delinsTGAAACCGGTTCCTATAC	ENSP00000505631.1:p.His545=
ENST00000355832.9:c.1794_1811delinsTGAAACCGGTTCCTATAC	ENSP00000348089.5:p.His598=
ENST00000475116.1:n.275+7394_275+7411delinsTGAAACCGGTTCCTATAC
ENST00000623073.3:c.195_212delinsTGAAACCGGTTCCTATAC	ENSP00000485650.1:p.His65=
ENST00000623115.3:c.-70+7394_-70+7411delinsTGAAACCGGTTCCTATAC	ENSP00000485321.1:n.-70+7394_-70+7411deli...
ENST00000623318.1:c.195_212delinsTGAAACCGGTTCCTATAC	ENSP00000485423.1:p.His65=
NM_000124.3:c.1794_1811delinsTGAAACCGGTTCCTATAC	NP_000115.1:p.His598=
NM_001346440.1:c.1794_1811delinsTGAAACCGGTTCCTATAC	NP_001333369.1:p.His598=
NM_000124.4:c.1794_1811delinsTGAAACCGGTTCCTATAC MANE Select	NP_000115.1:p.His598=
NM_001346440.2:c.1794_1811delinsTGAAACCGGTTCCTATAC	NP_001333369.1:p.His598=