Canonical Allele Identifier: CA593367698

Gene: ERCC6

Linked Data

• gnomAD v2: 10-50701449-AG-A
• MyVariant Identifiers: chr10:g.50701450del (hg19) ; chr10:g.49493404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493404del , CM000672.2:g.49493404del	GRCh38
NC_000010.10:g.50701450del , CM000672.1:g.50701450del	GRCh37
NC_000010.9:g.50371456del	NCBI36
NG_009442.1:g.50698del , LRG_465:g.50698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-152del MANE Select	ENSP00000348089.5:n.1686-152del
ENST00000681632.1:n.1764-152del
ENST00000681659.1:c.1527-152del	ENSP00000505631.1:n.1527-152del
ENST00000355832.9:c.1686-152del	ENSP00000348089.5:n.1686-152del
ENST00000475116.1:n.275+7134del
ENST00000623073.3:c.87-152del	ENSP00000485650.1:n.87-152del
ENST00000623115.3:c.-70+7134del	ENSP00000485321.1:n.-70+7134del
ENST00000623318.1:c.87-152del	ENSP00000485423.1:n.87-152del
NM_000124.3:c.1686-152del	NP_000115.1:n.1686-152del
NM_001346440.1:c.1686-152del	NP_001333369.1:n.1686-152del
NM_000124.4:c.1686-152del MANE Select	NP_000115.1:n.1686-152del
NM_001346440.2:c.1686-152del	NP_001333369.1:n.1686-152del