Canonical Allele Identifier: CA593780527

Gene: ERCC6

Linked Data

• dbSNP Id: rs1306131930
• gnomAD v2: 10-50669105-ATTAAGGT-A
• gnomAD v3: 10-49461059-ATTAAGGT-A
• gnomAD v4: 10-49461059-ATTAAGGT-A
• MyVariant Identifiers: chr10:g.50669106_50669112del (hg19) ; chr10:g.49461060_49461066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461064_49461070del , CM000672.2:g.49461064_49461070del	GRCh38
NC_000010.10:g.50669110_50669116del , CM000672.1:g.50669110_50669116del	GRCh37
NC_000010.9:g.50339116_50339122del	NCBI36
NG_009442.1:g.83036_83042del , LRG_465:g.83036_83042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+286_3983+292del MANE Select	ENSP00000348089.5:n.3983+286_3983+292del
ENST00000679552.1:n.1054+286_1054+292del
ENST00000679871.1:n.1129+286_1129+292del
ENST00000679974.1:n.1032+286_1032+292del
ENST00000681632.1:n.5386+286_5386+292del
ENST00000681659.1:c.3824+286_3824+292del	ENSP00000505631.1:n.3824+286_3824+292del
ENST00000355832.9:c.3983+286_3983+292del	ENSP00000348089.5:n.3983+286_3983+292del
ENST00000465653.1:n.305+286_305+292del
ENST00000623073.3:c.*2279+286_*2279+292del	ENSP00000485650.1:n.*2279+286_*2279+292del
ENST00000623115.3:c.2093+286_2093+292del	ENSP00000485321.1:n.2093+286_2093+292del
ENST00000624341.3:c.1815+286_1815+292del
NM_000124.3:c.3983+286_3983+292del	NP_000115.1:n.3983+286_3983+292del
XR_945953.1:n.243-10501_243-10495del
NM_001346440.1:c.3983+286_3983+292del	NP_001333369.1:n.3983+286_3983+292del
NM_000124.4:c.3983+286_3983+292del MANE Select	NP_000115.1:n.3983+286_3983+292del
NM_001346440.2:c.3983+286_3983+292del	NP_001333369.1:n.3983+286_3983+292del