Canonical Allele Identifier: CA2787930310

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493372_49493373insAC , CM000672.2:g.49493372_49493373insAC	GRCh38
NC_000010.10:g.50701418_50701419insAC , CM000672.1:g.50701418_50701419insAC	GRCh37
NC_000010.9:g.50371424_50371425insAC	NCBI36
NG_009442.1:g.50729_50730insGT , LRG_465:g.50729_50730insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-121_1686-120insGT MANE Select	ENSP00000348089.5:n.1686-121_1686-120insGT
ENST00000681632.1:n.1764-121_1764-120insGT
ENST00000681659.1:c.1527-121_1527-120insGT	ENSP00000505631.1:n.1527-121_1527-120insGT
ENST00000355832.9:c.1686-121_1686-120insGT	ENSP00000348089.5:n.1686-121_1686-120insGT
ENST00000475116.1:n.275+7165_275+7166insGT
ENST00000623073.3:c.87-121_87-120insGT	ENSP00000485650.1:n.87-121_87-120insGT
ENST00000623115.3:c.-70+7165_-70+7166insGT	ENSP00000485321.1:n.-70+7165_-70+7166insGT
ENST00000623318.1:c.87-121_87-120insGT	ENSP00000485423.1:n.87-121_87-120insGT
NM_000124.3:c.1686-121_1686-120insGT	NP_000115.1:n.1686-121_1686-120insGT
NM_001346440.1:c.1686-121_1686-120insGT	NP_001333369.1:n.1686-121_1686-120insGT
NM_000124.4:c.1686-121_1686-120insGT MANE Select	NP_000115.1:n.1686-121_1686-120insGT
NM_001346440.2:c.1686-121_1686-120insGT	NP_001333369.1:n.1686-121_1686-120insGT