Canonical Allele Identifier: CA5495409

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 850898
• ClinVar RCV Id: RCV001055175
• dbSNP Id: rs755974092
• ExAC: 10:50678898 TAGATGGCATTTGG / T
• gnomAD v2: 10-50678898-TAGATGGCATTTGG-T
• gnomAD v3: 10-49470852-TAGATGGCATTTGG-T
• gnomAD v4: 10-49470852-TAGATGGCATTTGG-T
• MyVariant Identifiers: chr10:g.50678899_50678911del (hg19) ; chr10:g.49470853_49470865del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470853_49470865del , CM000672.2:g.49470853_49470865del	GRCh38
NC_000010.10:g.50678899_50678911del , CM000672.1:g.50678899_50678911del	GRCh37
NC_000010.9:g.50348905_50348917del	NCBI36
NG_009442.1:g.73237_73249del , LRG_465:g.73237_73249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3095_3107del MANE Select	ENSP00000348089.5:p.Pro1032GlnfsTer28
ENST00000679552.1:n.166_178del
ENST00000679871.1:n.241_253del
ENST00000679974.1:n.144_156del
ENST00000681632.1:n.4498_4510del
ENST00000681659.1:c.2936_2948del	ENSP00000505631.1:p.Pro979GlnfsTer28
ENST00000355832.9:c.3095_3107del	ENSP00000348089.5:p.Pro1032GlnfsTer28
ENST00000623073.3:c.*1391_*1403del	ENSP00000485650.1:n.*1391_*1403del
ENST00000623115.3:c.1205_1217del	ENSP00000485321.1:p.Pro402GlnfsTer28
ENST00000624341.3:c.927_939del
NM_000124.3:c.3095_3107del	NP_000115.1:p.Pro1032GlnfsTer28
XR_945953.1:n.243-712_243-700del
NM_001346440.1:c.3095_3107del	NP_001333369.1:p.Pro1032GlnfsTer28
NM_000124.4:c.3095_3107del MANE Select	NP_000115.1:p.Pro1032GlnfsTer28
NM_001346440.2:c.3095_3107del	NP_001333369.1:p.Pro1032GlnfsTer28