Canonical Allele Identifier: CA5495503

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 796914
• ClinVar RCV Id: RCV000980342
• dbSNP Id: rs773056239
• ExAC: 10:50680521 AAC / A
• gnomAD v2: 10-50680521-AAC-A
• gnomAD v4: 10-49472475-AAC-A
• MyVariant Identifiers: chr10:g.50680522_50680523del (hg19) ; chr10:g.49472476_49472477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472477_49472478del , CM000672.2:g.49472477_49472478del	GRCh38
NC_000010.10:g.50680523_50680524del , CM000672.1:g.50680523_50680524del	GRCh37
NC_000010.9:g.50350529_50350530del	NCBI36
NG_009442.1:g.71625_71626del , LRG_465:g.71625_71626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-7_2830-6del MANE Select	ENSP00000348089.5:n.2830-7_2830-6del
ENST00000681632.1:n.4226_4227del
ENST00000681659.1:c.2671-7_2671-6del	ENSP00000505631.1:n.2671-7_2671-6del
ENST00000355832.9:c.2830-7_2830-6del	ENSP00000348089.5:n.2830-7_2830-6del
ENST00000623073.3:c.*1126-7_*1126-6del	ENSP00000485650.1:n.*1126-7_*1126-6del
ENST00000623115.3:c.940-7_940-6del	ENSP00000485321.1:n.940-7_940-6del
ENST00000624341.3:c.662-7_662-6del
NM_000124.3:c.2830-7_2830-6del	NP_000115.1:n.2830-7_2830-6del
XR_945953.1:n.690-226_690-225del
NM_001346440.1:c.2830-7_2830-6del	NP_001333369.1:n.2830-7_2830-6del
NM_000124.4:c.2830-7_2830-6del MANE Select	NP_000115.1:n.2830-7_2830-6del
NM_001346440.2:c.2830-7_2830-6del	NP_001333369.1:n.2830-7_2830-6del