Canonical Allele Identifier: CA2609135071

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472490-ACCTCTCAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472491_49472499del , CM000672.2:g.49472491_49472499del	GRCh38
NC_000010.10:g.50680537_50680545del , CM000672.1:g.50680537_50680545del	GRCh37
NC_000010.9:g.50350543_50350551del	NCBI36
NG_009442.1:g.71603_71611del , LRG_465:g.71603_71611del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-29_2830-21del MANE Select	ENSP00000348089.5:n.2830-29_2830-21del
ENST00000681632.1:n.4204_4212del
ENST00000681659.1:c.2671-29_2671-21del	ENSP00000505631.1:n.2671-29_2671-21del
ENST00000355832.9:c.2830-29_2830-21del	ENSP00000348089.5:n.2830-29_2830-21del
ENST00000623073.3:c.*1126-29_*1126-21del	ENSP00000485650.1:n.*1126-29_*1126-21del
ENST00000623115.3:c.940-29_940-21del	ENSP00000485321.1:n.940-29_940-21del
ENST00000624341.3:c.662-29_662-21del
NM_000124.3:c.2830-29_2830-21del	NP_000115.1:n.2830-29_2830-21del
XR_945953.1:n.690-212_690-204del
NM_001346440.1:c.2830-29_2830-21del	NP_001333369.1:n.2830-29_2830-21del
NM_000124.4:c.2830-29_2830-21del MANE Select	NP_000115.1:n.2830-29_2830-21del
NM_001346440.2:c.2830-29_2830-21del	NP_001333369.1:n.2830-29_2830-21del