Canonical Allele Identifier: CA1908749356

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470345_49470346delinsCT , CM000672.2:g.49470345_49470346delinsCT	GRCh38
NC_000010.10:g.50678391_50678392delinsCT , CM000672.1:g.50678391_50678392delinsCT	GRCh37
NC_000010.9:g.50348397_50348398delinsCT	NCBI36
NG_009442.1:g.73756_73757delinsAG , LRG_465:g.73756_73757delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3614_3615delinsAG MANE Select	ENSP00000348089.5:p.Lys1205=
ENST00000679552.1:n.685_686delinsAG
ENST00000679871.1:n.760_761delinsAG
ENST00000679974.1:n.663_664delinsAG
ENST00000681632.1:n.5017_5018delinsAG
ENST00000681659.1:c.3455_3456delinsAG	ENSP00000505631.1:p.Lys1152=
ENST00000355832.9:c.3614_3615delinsAG	ENSP00000348089.5:p.Lys1205=
ENST00000623073.3:c.*1910_*1911delinsAG	ENSP00000485650.1:n.*1910_*1911delinsAG
ENST00000623115.3:c.1724_1725delinsAG	ENSP00000485321.1:p.Lys575=
ENST00000624341.3:c.1446_1447delinsAG
NM_000124.3:c.3614_3615delinsAG	NP_000115.1:p.Lys1205=
XR_945953.1:n.243-1220_243-1219delinsCT
NM_001346440.1:c.3614_3615delinsAG	NP_001333369.1:p.Lys1205=
NM_000124.4:c.3614_3615delinsAG MANE Select	NP_000115.1:p.Lys1205=
NM_001346440.2:c.3614_3615delinsAG	NP_001333369.1:p.Lys1205=