Canonical Allele Identifier: CA2609135043
Gene: ERCC6 HGNC NCBI

Linked Data

gnomAD v4: 10-49472477-C-CAGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49472487_49472490dup , CM000672.2:g.49472487_49472490dup GRCh38
NC_000010.10:g.50680533_50680536dup , CM000672.1:g.50680533_50680536dup GRCh37
NC_000010.9:g.50350539_50350542dup NCBI36
NG_009442.1:g.71621_71624dup , LRG_465:g.71621_71624dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2830-11_2830-8dup MANE Select ENSP00000348089.5:n.2830-11_2830-8dup
ENST00000681632.1:n.4222_4225dup
ENST00000681659.1:c.2671-11_2671-8dup ENSP00000505631.1:n.2671-11_2671-8dup
ENST00000355832.9:c.2830-11_2830-8dup ENSP00000348089.5:n.2830-11_2830-8dup
ENST00000623073.3:c.*1126-11_*1126-8dup ENSP00000485650.1:n.*1126-11_*1126-8dup
ENST00000623115.3:c.940-11_940-8dup ENSP00000485321.1:n.940-11_940-8dup
ENST00000624341.3:c.662-11_662-8dup
NM_000124.3:c.2830-11_2830-8dup NP_000115.1:n.2830-11_2830-8dup
XR_945953.1:n.690-216_690-213dup
NM_001346440.1:c.2830-11_2830-8dup NP_001333369.1:n.2830-11_2830-8dup
NM_000124.4:c.2830-11_2830-8dup MANE Select NP_000115.1:n.2830-11_2830-8dup
NM_001346440.2:c.2830-11_2830-8dup NP_001333369.1:n.2830-11_2830-8dup
Search 100 bp 5'
Search 100 bp 3'