Canonical Allele Identifier: CA593780528

Gene: ERCC6

Linked Data

• dbSNP Id: rs1246711297
• gnomAD v2: 10-50669137-C-CAGGA
• gnomAD v3: 10-49461091-C-CAGGA
• gnomAD v4: 10-49461091-C-CAGGA
• MyVariant Identifiers: chr10:g.50669137_50669138insAGGA (hg19) ; chr10:g.49461091_49461092insAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461091_49461092insAGGA , CM000672.2:g.49461091_49461092insAGGA	GRCh38
NC_000010.10:g.50669137_50669138insAGGA , CM000672.1:g.50669137_50669138insAGGA	GRCh37
NC_000010.9:g.50339143_50339144insAGGA	NCBI36
NG_009442.1:g.83010_83011insTCCT , LRG_465:g.83010_83011insTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+260_3983+261insTCCT MANE Select	ENSP00000348089.5:n.3983+260_3983+261insTCCT
ENST00000679552.1:n.1054+260_1054+261insTCCT
ENST00000679871.1:n.1129+260_1129+261insTCCT
ENST00000679974.1:n.1032+260_1032+261insTCCT
ENST00000681632.1:n.5386+260_5386+261insTCCT
ENST00000681659.1:c.3824+260_3824+261insTCCT	ENSP00000505631.1:n.3824+260_3824+261insTCCT
ENST00000355832.9:c.3983+260_3983+261insTCCT	ENSP00000348089.5:n.3983+260_3983+261insTCCT
ENST00000465653.1:n.305+260_305+261insTCCT
ENST00000623073.3:c.*2279+260_*2279+261insTCCT	ENSP00000485650.1:n.*2279+260_*2279+261insTCCT
ENST00000623115.3:c.2093+260_2093+261insTCCT	ENSP00000485321.1:n.2093+260_2093+261insTCCT
ENST00000624341.3:c.1815+260_1815+261insTCCT
NM_000124.3:c.3983+260_3983+261insTCCT	NP_000115.1:n.3983+260_3983+261insTCCT
XR_945953.1:n.243-10474_243-10473insAGGA
NM_001346440.1:c.3983+260_3983+261insTCCT	NP_001333369.1:n.3983+260_3983+261insTCCT
NM_000124.4:c.3983+260_3983+261insTCCT MANE Select	NP_000115.1:n.3983+260_3983+261insTCCT
NM_001346440.2:c.3983+260_3983+261insTCCT	NP_001333369.1:n.3983+260_3983+261insTCCT