Canonical Allele Identifier: CA2787928751

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470890_49470893del , CM000672.2:g.49470890_49470893del	GRCh38
NC_000010.10:g.50678936_50678939del , CM000672.1:g.50678936_50678939del	GRCh37
NC_000010.9:g.50348942_50348945del	NCBI36
NG_009442.1:g.73209_73212del , LRG_465:g.73209_73212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3071-4_3071-1del MANE Select	ENSP00000348089.5:n.3071-4_3071-1del
ENST00000679552.1:n.142-4_142-1del
ENST00000679871.1:n.217-4_217-1del
ENST00000679974.1:n.120-4_120-1del
ENST00000681632.1:n.4474-4_4474-1del
ENST00000681659.1:c.2912-4_2912-1del	ENSP00000505631.1:n.2912-4_2912-1del
ENST00000355832.9:c.3071-4_3071-1del	ENSP00000348089.5:n.3071-4_3071-1del
ENST00000623073.3:c.*1367-4_*1367-1del	ENSP00000485650.1:n.*1367-4_*1367-1del
ENST00000623115.3:c.1181-4_1181-1del	ENSP00000485321.1:n.1181-4_1181-1del
ENST00000624341.3:c.903-4_903-1del
NM_000124.3:c.3071-4_3071-1del	NP_000115.1:n.3071-4_3071-1del
XR_945953.1:n.243-675_243-672del
NM_001346440.1:c.3071-4_3071-1del	NP_001333369.1:n.3071-4_3071-1del
NM_000124.4:c.3071-4_3071-1del MANE Select	NP_000115.1:n.3071-4_3071-1del
NM_001346440.2:c.3071-4_3071-1del	NP_001333369.1:n.3071-4_3071-1del