Canonical Allele Identifier: CA1908772071

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492885_49492889delinsAACAG , CM000672.2:g.49492885_49492889delinsAACAG	GRCh38
NC_000010.10:g.50700931_50700935delinsAACAG , CM000672.1:g.50700931_50700935delinsAACAG	GRCh37
NC_000010.9:g.50370937_50370941delinsAACAG	NCBI36
NG_009442.1:g.51213_51217delinsCTGTT , LRG_465:g.51213_51217delinsCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1821+228_1821+232delinsCTGTT MANE Select	ENSP00000348089.5:n.1821+228_1821+232delinsCTGTT
ENST00000681632.1:n.1899+228_1899+232delinsCTGTT
ENST00000681659.1:c.1662+228_1662+232delinsCTGTT	ENSP00000505631.1:n.1662+228_1662+232delinsCTGTT
ENST00000355832.9:c.1821+228_1821+232delinsCTGTT	ENSP00000348089.5:n.1821+228_1821+232delinsCTGTT
ENST00000475116.1:n.275+7649_275+7653delinsCTGTT
ENST00000623073.3:c.222+228_222+232delinsCTGTT	ENSP00000485650.1:n.222+228_222+232delinsCTGTT
ENST00000623115.3:c.-70+7649_-70+7653delinsCTGTT	ENSP00000485321.1:n.-70+7649_-70+7653delinsCTGTT
ENST00000623318.1:c.222+228_222+232delinsCTGTT	ENSP00000485423.1:n.222+228_222+232delinsCTGTT
NM_000124.3:c.1821+228_1821+232delinsCTGTT	NP_000115.1:n.1821+228_1821+232delinsCTGTT
NM_001346440.1:c.1821+228_1821+232delinsCTGTT	NP_001333369.1:n.1821+228_1821+232delinsCTGTT
NM_000124.4:c.1821+228_1821+232delinsCTGTT MANE Select	NP_000115.1:n.1821+228_1821+232delinsCTGTT
NM_001346440.2:c.1821+228_1821+232delinsCTGTT	NP_001333369.1:n.1821+228_1821+232delinsCTGTT