Canonical Allele Identifier: CA1908745374

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461200_49461201delinsTC , CM000672.2:g.49461200_49461201delinsTC	GRCh38
NC_000010.10:g.50669246_50669247delinsTC , CM000672.1:g.50669246_50669247delinsTC	GRCh37
NC_000010.9:g.50339252_50339253delinsTC	NCBI36
NG_009442.1:g.82901_82902delinsGA , LRG_465:g.82901_82902delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+151_3983+152delinsGA MANE Select	ENSP00000348089.5:n.3983+151_3983+152delinsGA
ENST00000679552.1:n.1054+151_1054+152delinsGA
ENST00000679871.1:n.1129+151_1129+152delinsGA
ENST00000679974.1:n.1032+151_1032+152delinsGA
ENST00000681632.1:n.5386+151_5386+152delinsGA
ENST00000681659.1:c.3824+151_3824+152delinsGA	ENSP00000505631.1:n.3824+151_3824+152delinsGA
ENST00000355832.9:c.3983+151_3983+152delinsGA	ENSP00000348089.5:n.3983+151_3983+152delinsGA
ENST00000465653.1:n.305+151_305+152delinsGA
ENST00000623073.3:c.*2279+151_*2279+152delinsGA	ENSP00000485650.1:n.*2279+151_*2279+152delinsGA
ENST00000623115.3:c.2093+151_2093+152delinsGA	ENSP00000485321.1:n.2093+151_2093+152delinsGA
ENST00000624341.3:c.1815+151_1815+152delinsGA
NM_000124.3:c.3983+151_3983+152delinsGA	NP_000115.1:n.3983+151_3983+152delinsGA
XR_945953.1:n.243-10365_243-10364delinsTC
NM_001346440.1:c.3983+151_3983+152delinsGA	NP_001333369.1:n.3983+151_3983+152delinsGA
NM_000124.4:c.3983+151_3983+152delinsGA MANE Select	NP_000115.1:n.3983+151_3983+152delinsGA
NM_001346440.2:c.3983+151_3983+152delinsGA	NP_001333369.1:n.3983+151_3983+152delinsGA