Canonical Allele Identifier: CA2787929028

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472593_49472599del , CM000672.2:g.49472593_49472599del	GRCh38
NC_000010.10:g.50680639_50680645del , CM000672.1:g.50680639_50680645del	GRCh37
NC_000010.9:g.50350645_50350651del	NCBI36
NG_009442.1:g.71503_71509del , LRG_465:g.71503_71509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2830-129_2830-123del MANE Select	ENSP00000348089.5:n.2830-129_2830-123del
ENST00000681632.1:n.4104_4110del
ENST00000681659.1:c.2671-129_2671-123del	ENSP00000505631.1:n.2671-129_2671-123del
ENST00000355832.9:c.2830-129_2830-123del	ENSP00000348089.5:n.2830-129_2830-123del
ENST00000623073.3:c.*1126-129_*1126-123del	ENSP00000485650.1:n.*1126-129_*1126-123del
ENST00000623115.3:c.940-129_940-123del	ENSP00000485321.1:n.940-129_940-123del
ENST00000624341.3:c.662-129_662-123del
NM_000124.3:c.2830-129_2830-123del	NP_000115.1:n.2830-129_2830-123del
XR_945953.1:n.690-110_690-104del
NM_001346440.1:c.2830-129_2830-123del	NP_001333369.1:n.2830-129_2830-123del
NM_000124.4:c.2830-129_2830-123del MANE Select	NP_000115.1:n.2830-129_2830-123del
NM_001346440.2:c.2830-129_2830-123del	NP_001333369.1:n.2830-129_2830-123del