Canonical Allele Identifier: CA1908760011

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482659_49482660delinsCA , CM000672.2:g.49482659_49482660delinsCA	GRCh38
NC_000010.10:g.50690705_50690706delinsCA , CM000672.1:g.50690705_50690706delinsCA	GRCh37
NC_000010.9:g.50360711_50360712delinsCA	NCBI36
NG_009442.1:g.61442_61443delinsTG , LRG_465:g.61442_61443delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2169+27_2169+28delinsTG MANE Select	ENSP00000348089.5:n.2169+27_2169+28delinsTG
ENST00000681632.1:n.2247+27_2247+28delinsTG
ENST00000681659.1:c.2010+27_2010+28delinsTG	ENSP00000505631.1:n.2010+27_2010+28delinsTG
ENST00000355832.9:c.2169+27_2169+28delinsTG	ENSP00000348089.5:n.2169+27_2169+28delinsTG
ENST00000623073.3:c.*561+27_*561+28delinsTG	ENSP00000485650.1:n.*561+27_*561+28delinsTG
ENST00000623115.3:c.279+27_279+28delinsTG	ENSP00000485321.1:n.279+27_279+28delinsTG
NM_000124.3:c.2169+27_2169+28delinsTG	NP_000115.1:n.2169+27_2169+28delinsTG
NM_001346440.1:c.2169+27_2169+28delinsTG	NP_001333369.1:n.2169+27_2169+28delinsTG
NM_000124.4:c.2169+27_2169+28delinsTG MANE Select	NP_000115.1:n.2169+27_2169+28delinsTG
NM_001346440.2:c.2169+27_2169+28delinsTG	NP_001333369.1:n.2169+27_2169+28delinsTG