Canonical Allele Identifier: CA593367687

Gene: ERCC6

Linked Data

• dbSNP Id: rs1486163598
• gnomAD v2: 10-50701343-TAC-T
• gnomAD v3: 10-49493297-TAC-T
• gnomAD v4: 10-49493297-TAC-T
• MyVariant Identifiers: chr10:g.50701344_50701345del (hg19) ; chr10:g.49493298_49493299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493299_49493300del , CM000672.2:g.49493299_49493300del	GRCh38
NC_000010.10:g.50701345_50701346del , CM000672.1:g.50701345_50701346del	GRCh37
NC_000010.9:g.50371351_50371352del	NCBI36
NG_009442.1:g.50803_50804del , LRG_465:g.50803_50804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-47_1686-46del MANE Select	ENSP00000348089.5:n.1686-47_1686-46del
ENST00000681632.1:n.1764-47_1764-46del
ENST00000681659.1:c.1527-47_1527-46del	ENSP00000505631.1:n.1527-47_1527-46del
ENST00000355832.9:c.1686-47_1686-46del	ENSP00000348089.5:n.1686-47_1686-46del
ENST00000475116.1:n.275+7239_275+7240del
ENST00000623073.3:c.87-47_87-46del	ENSP00000485650.1:n.87-47_87-46del
ENST00000623115.3:c.-70+7239_-70+7240del	ENSP00000485321.1:n.-70+7239_-70+7240del
ENST00000623318.1:c.87-47_87-46del	ENSP00000485423.1:n.87-47_87-46del
NM_000124.3:c.1686-47_1686-46del	NP_000115.1:n.1686-47_1686-46del
NM_001346440.1:c.1686-47_1686-46del	NP_001333369.1:n.1686-47_1686-46del
NM_000124.4:c.1686-47_1686-46del MANE Select	NP_000115.1:n.1686-47_1686-46del
NM_001346440.2:c.1686-47_1686-46del	NP_001333369.1:n.1686-47_1686-46del