Canonical Allele Identifier: CA2787928781

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471162_49471165del , CM000672.2:g.49471162_49471165del	GRCh38
NC_000010.10:g.50679208_50679211del , CM000672.1:g.50679208_50679211del	GRCh37
NC_000010.9:g.50349214_50349217del	NCBI36
NG_009442.1:g.72937_72940del , LRG_465:g.72937_72940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-45_2925-42del MANE Select	ENSP00000348089.5:n.2925-45_2925-42del
ENST00000679552.1:n.142-276_142-273del
ENST00000679871.1:n.71-45_71-42del
ENST00000679974.1:n.120-276_120-273del
ENST00000681632.1:n.4328-45_4328-42del
ENST00000681659.1:c.2766-45_2766-42del	ENSP00000505631.1:n.2766-45_2766-42del
ENST00000355832.9:c.2925-45_2925-42del	ENSP00000348089.5:n.2925-45_2925-42del
ENST00000623073.3:c.*1221-45_*1221-42del	ENSP00000485650.1:n.*1221-45_*1221-42del
ENST00000623115.3:c.1035-45_1035-42del	ENSP00000485321.1:n.1035-45_1035-42del
ENST00000624341.3:c.757-45_757-42del
NM_000124.3:c.2925-45_2925-42del	NP_000115.1:n.2925-45_2925-42del
XR_945953.1:n.243-403_243-400del
NM_001346440.1:c.2925-45_2925-42del	NP_001333369.1:n.2925-45_2925-42del
NM_000124.4:c.2925-45_2925-42del MANE Select	NP_000115.1:n.2925-45_2925-42del
NM_001346440.2:c.2925-45_2925-42del	NP_001333369.1:n.2925-45_2925-42del