Canonical Allele Identifier: CA2609139947

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524537-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524537_49524538insT , CM000672.2:g.49524537_49524538insT	GRCh38
NC_000010.10:g.50732583_50732584insT , CM000672.1:g.50732583_50732584insT	GRCh37
NC_000010.9:g.50402589_50402590insT	NCBI36
NG_009442.1:g.19564_19565insA , LRG_465:g.19564_19565insA
NG_033155.1:g.4744_4745insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.892_893insA MANE Select	ENSP00000348089.5:p.Ala298AspfsTer14
ENST00000447839.7:c.892_893insA MANE Plus Clinical	ENSP00000387966.2:p.Ala298AspfsTer14
ENST00000679596.1:c.*521_*522insA	ENSP00000504862.1:n.*521_*522insA
ENST00000679811.1:n.975_976insA
ENST00000680107.1:c.652+3879_652+3880insA	ENSP00000505909.1:n.652+3879_652+3880insA
ENST00000680233.1:n.985_986insA
ENST00000681632.1:n.970_971insA
ENST00000681659.1:c.892_893insA	ENSP00000505631.1:p.Ala298AspfsTer14
ENST00000355832.9:c.892_893insA	ENSP00000348089.5:p.Ala298AspfsTer14
ENST00000447839.6:c.892_893insA	ENSP00000387966.2:p.Ala298AspfsTer14
ENST00000515869.1:c.892_893insA	ENSP00000423550.1:p.Ala298AspfsTer14
NM_000124.3:c.892_893insA	NP_000115.1:p.Ala298AspfsTer14
NM_001277058.1:c.892_893insA	NP_001263987.1:p.Ala298AspfsTer14
NM_001277059.1:c.892_893insA	NP_001263988.1:p.Ala298AspfsTer14
NM_001346440.1:c.892_893insA	NP_001333369.1:p.Ala298AspfsTer14
NM_000124.4:c.892_893insA MANE Select	NP_000115.1:p.Ala298AspfsTer14
NM_001277058.2:c.892_893insA MANE Plus Clinical	NP_001263987.1:p.Ala298AspfsTer14
NM_001277059.2:c.892_893insA	NP_001263988.1:p.Ala298AspfsTer14
NM_001346440.2:c.892_893insA	NP_001333369.1:p.Ala298AspfsTer14