Canonical Allele Identifier: CA2609133967

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470450-C-CTCCCAAAAAGCTTCTGTTTGAGCCTGGCTGGGTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470453_49470488dup , CM000672.2:g.49470453_49470488dup	GRCh38
NC_000010.10:g.50678499_50678534dup , CM000672.1:g.50678499_50678534dup	GRCh37
NC_000010.9:g.50348505_50348540dup	NCBI36
NG_009442.1:g.73616_73651dup , LRG_465:g.73616_73651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3474_3509dup MANE Select	ENSP00000348089.5:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGl...
ENST00000679552.1:n.545_580dup
ENST00000679871.1:n.620_655dup
ENST00000679974.1:n.523_558dup
ENST00000681632.1:n.4877_4912dup
ENST00000681659.1:c.3315_3350dup	ENSP00000505631.1:p.Glu1117_Asn1118insArgProSerGlnAlaGlnThrGl...
ENST00000355832.9:c.3474_3509dup	ENSP00000348089.5:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGl...
ENST00000623073.3:c.*1770_*1805dup	ENSP00000485650.1:n.*1770_*1805dup
ENST00000623115.3:c.1584_1619dup	ENSP00000485321.1:p.Glu540_Asn541insArgProSerGlnAlaGlnThrGluA...
ENST00000624341.3:c.1306_1341dup
NM_000124.3:c.3474_3509dup	NP_000115.1:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGluAlaPh...
XR_945953.1:n.243-1112_243-1077dup
NM_001346440.1:c.3474_3509dup	NP_001333369.1:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGluAl...
NM_000124.4:c.3474_3509dup MANE Select	NP_000115.1:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGluAlaPh...
NM_001346440.2:c.3474_3509dup	NP_001333369.1:p.Glu1170_Asn1171insArgProSerGlnAlaGlnThrGluAl...