Canonical Allele Identifier: CA2787930283

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493335_49493336insCCAAACACACCC , CM000672.2:g.49493335_49493336insCCAAACACACCC	GRCh38
NC_000010.10:g.50701381_50701382insCCAAACACACCC , CM000672.1:g.50701381_50701382insCCAAACACACCC	GRCh37
NC_000010.9:g.50371387_50371388insCCAAACACACCC	NCBI36
NG_009442.1:g.50766_50767insGGGTGTGTTTGG , LRG_465:g.50766_50767insGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-84_1686-83insGGGTGTGTTTGG MANE Select	ENSP00000348089.5:n.1686-84_1686-83insGGGTGTGTTTGG
ENST00000681632.1:n.1764-84_1764-83insGGGTGTGTTTGG
ENST00000681659.1:c.1527-84_1527-83insGGGTGTGTTTGG	ENSP00000505631.1:n.1527-84_1527-83insGGGTGTGTTTGG
ENST00000355832.9:c.1686-84_1686-83insGGGTGTGTTTGG	ENSP00000348089.5:n.1686-84_1686-83insGGGTGTGTTTGG
ENST00000475116.1:n.275+7202_275+7203insGGGTGTGTTTGG
ENST00000623073.3:c.87-84_87-83insGGGTGTGTTTGG	ENSP00000485650.1:n.87-84_87-83insGGGTGTGTTTGG
ENST00000623115.3:c.-70+7202_-70+7203insGGGTGTGTTTGG	ENSP00000485321.1:n.-70+7202_-70+7203insGGGTGTGTTTGG
ENST00000623318.1:c.87-84_87-83insGGGTGTGTTTGG	ENSP00000485423.1:n.87-84_87-83insGGGTGTGTTTGG
NM_000124.3:c.1686-84_1686-83insGGGTGTGTTTGG	NP_000115.1:n.1686-84_1686-83insGGGTGTGTTTGG
NM_001346440.1:c.1686-84_1686-83insGGGTGTGTTTGG	NP_001333369.1:n.1686-84_1686-83insGGGTGTGTTTGG
NM_000124.4:c.1686-84_1686-83insGGGTGTGTTTGG MANE Select	NP_000115.1:n.1686-84_1686-83insGGGTGTGTTTGG
NM_001346440.2:c.1686-84_1686-83insGGGTGTGTTTGG	NP_001333369.1:n.1686-84_1686-83insGGGTGTGTTTGG