Canonical Allele Identifier: CA2574454466

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471153_49471164del , CM000672.2:g.49471153_49471164del	GRCh38
NC_000010.10:g.50679199_50679210del , CM000672.1:g.50679199_50679210del	GRCh37
NC_000010.9:g.50349205_50349216del	NCBI36
NG_009442.1:g.72939_72950del , LRG_465:g.72939_72950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-43_2925-32del MANE Select	ENSP00000348089.5:n.2925-43_2925-32del
ENST00000679552.1:n.142-274_142-263del
ENST00000679871.1:n.71-43_71-32del
ENST00000679974.1:n.120-274_120-263del
ENST00000681632.1:n.4328-43_4328-32del
ENST00000681659.1:c.2766-43_2766-32del	ENSP00000505631.1:n.2766-43_2766-32del
ENST00000355832.9:c.2925-43_2925-32del	ENSP00000348089.5:n.2925-43_2925-32del
ENST00000623073.3:c.*1221-43_*1221-32del	ENSP00000485650.1:n.*1221-43_*1221-32del
ENST00000623115.3:c.1035-43_1035-32del	ENSP00000485321.1:n.1035-43_1035-32del
ENST00000624341.3:c.757-43_757-32del
NM_000124.3:c.2925-43_2925-32del	NP_000115.1:n.2925-43_2925-32del
XR_945953.1:n.243-412_243-401del
NM_001346440.1:c.2925-43_2925-32del	NP_001333369.1:n.2925-43_2925-32del
NM_000124.4:c.2925-43_2925-32del MANE Select	NP_000115.1:n.2925-43_2925-32del
NM_001346440.2:c.2925-43_2925-32del	NP_001333369.1:n.2925-43_2925-32del