Canonical Allele Identifier: CA2580611102

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460365-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460366_49460367insGA , CM000672.2:g.49460366_49460367insGA	GRCh38
NC_000010.10:g.50668412_50668413insGA , CM000672.1:g.50668412_50668413insGA	GRCh37
NC_000010.9:g.50338418_50338419insGA	NCBI36
NG_009442.1:g.83736_83737insCT , LRG_465:g.83736_83737insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+7_4062+8insCT MANE Select	ENSP00000348089.5:n.4062+7_4062+8insCT
ENST00000679552.1:n.1140_1141insCT
ENST00000679871.1:n.1208+7_1208+8insCT
ENST00000679974.1:n.1111+7_1111+8insCT
ENST00000681632.1:n.5465+7_5465+8insCT
ENST00000681659.1:c.3903+7_3903+8insCT	ENSP00000505631.1:n.3903+7_3903+8insCT
ENST00000355832.9:c.4062+7_4062+8insCT	ENSP00000348089.5:n.4062+7_4062+8insCT
ENST00000465653.1:n.391_392insCT
ENST00000623073.3:c.*2358+7_*2358+8insCT	ENSP00000485650.1:n.*2358+7_*2358+8insCT
ENST00000623115.3:c.2172+7_2172+8insCT	ENSP00000485321.1:n.2172+7_2172+8insCT
ENST00000624341.3:c.1894+7_1894+8insCT
NM_000124.3:c.4062+7_4062+8insCT	NP_000115.1:n.4062+7_4062+8insCT
XR_945953.1:n.243-11199_243-11198insGA
NM_001346440.1:c.4062+7_4062+8insCT	NP_001333369.1:n.4062+7_4062+8insCT
NM_000124.4:c.4062+7_4062+8insCT MANE Select	NP_000115.1:n.4062+7_4062+8insCT
NM_001346440.2:c.4062+7_4062+8insCT	NP_001333369.1:n.4062+7_4062+8insCT