Canonical Allele Identifier: CA593780465

Gene: ERCC6

Linked Data

• dbSNP Id: rs1308105639
• gnomAD v2: 10-50679175-AT-A
• gnomAD v4: 10-49471129-AT-A
• MyVariant Identifiers: chr10:g.50679176del (hg19) ; chr10:g.49471130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471130del , CM000672.2:g.49471130del	GRCh38
NC_000010.10:g.50679176del , CM000672.1:g.50679176del	GRCh37
NC_000010.9:g.50349182del	NCBI36
NG_009442.1:g.72972del , LRG_465:g.72972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-10del MANE Select	ENSP00000348089.5:n.2925-10del
ENST00000679552.1:n.142-241del
ENST00000679871.1:n.71-10del
ENST00000679974.1:n.120-241del
ENST00000681632.1:n.4328-10del
ENST00000681659.1:c.2766-10del	ENSP00000505631.1:n.2766-10del
ENST00000355832.9:c.2925-10del	ENSP00000348089.5:n.2925-10del
ENST00000623073.3:c.*1221-10del	ENSP00000485650.1:n.*1221-10del
ENST00000623115.3:c.1035-10del	ENSP00000485321.1:n.1035-10del
ENST00000624341.3:c.757-10del
NM_000124.3:c.2925-10del	NP_000115.1:n.2925-10del
XR_945953.1:n.243-435del
NM_001346440.1:c.2925-10del	NP_001333369.1:n.2925-10del
NM_000124.4:c.2925-10del MANE Select	NP_000115.1:n.2925-10del
NM_001346440.2:c.2925-10del	NP_001333369.1:n.2925-10del