Canonical Allele Identifier: CA1908749258

Gene: ERCC6

Linked Data

• dbSNP Id: rs1656430138

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470115_49470116del , CM000672.2:g.49470115_49470116del	GRCh38
NC_000010.10:g.50678161_50678162del , CM000672.1:g.50678161_50678162del	GRCh37
NC_000010.9:g.50348167_50348168del	NCBI36
NG_009442.1:g.73986_73987del , LRG_465:g.73986_73987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+66_3778+67del MANE Select	ENSP00000348089.5:n.3778+66_3778+67del
ENST00000679552.1:n.849+66_849+67del
ENST00000679871.1:n.924+66_924+67del
ENST00000679974.1:n.827+66_827+67del
ENST00000681632.1:n.5181+66_5181+67del
ENST00000681659.1:c.3619+66_3619+67del	ENSP00000505631.1:n.3619+66_3619+67del
ENST00000355832.9:c.3778+66_3778+67del	ENSP00000348089.5:n.3778+66_3778+67del
ENST00000465653.1:n.100+66_100+67del
ENST00000623073.3:c.*2074+66_*2074+67del	ENSP00000485650.1:n.*2074+66_*2074+67del
ENST00000623115.3:c.1888+66_1888+67del	ENSP00000485321.1:n.1888+66_1888+67del
ENST00000624341.3:c.1610+66_1610+67del
NM_000124.3:c.3778+66_3778+67del	NP_000115.1:n.3778+66_3778+67del
XR_945953.1:n.243-1450_243-1449del
NM_001346440.1:c.3778+66_3778+67del	NP_001333369.1:n.3778+66_3778+67del
NM_000124.4:c.3778+66_3778+67del MANE Select	NP_000115.1:n.3778+66_3778+67del
NM_001346440.2:c.3778+66_3778+67del	NP_001333369.1:n.3778+66_3778+67del