Canonical Allele Identifier: CA2580081537

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470336_49470337insCA , CM000672.2:g.49470336_49470337insCA	GRCh38
NC_000010.10:g.50678382_50678383insCA , CM000672.1:g.50678382_50678383insCA	GRCh37
NC_000010.9:g.50348388_50348389insCA	NCBI36
NG_009442.1:g.73765_73766insTG , LRG_465:g.73765_73766insTG

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3623_3624insTG MANE Select	NP_000115.1:p.Ser1209AlafsTer19
ENST00000355832.10:c.3623_3624insTG MANE Select	ENSP00000348089.5:p.Ser1209AlafsTer19
NM_000124.3:c.3623_3624insTG	NP_000115.1:p.Ser1209AlafsTer19
NM_001346440.1:c.3623_3624insTG	NP_001333369.1:p.Ser1209AlafsTer19
NM_001346440.2:c.3623_3624insTG	NP_001333369.1:p.Ser1209AlafsTer19
ENST00000355832.9:c.3623_3624insTG	ENSP00000348089.5:p.Ser1209AlafsTer19
ENST00000623073.3:c.*1919_*1920insTG	ENSP00000485650.1:n.*1919_*1920insTG
ENST00000623115.3:c.1733_1734insTG	ENSP00000485321.1:p.Ser579AlafsTer19
ENST00000624341.3:c.1455_1456insTG
ENST00000679552.1:n.694_695insTG
ENST00000679871.1:n.769_770insTG
ENST00000679974.1:n.672_673insTG
ENST00000681632.1:n.5026_5027insTG
ENST00000681659.1:c.3464_3465insTG	ENSP00000505631.1:p.Ser1156AlafsTer19
XR_945953.1:n.243-1229_243-1228insCA