Canonical Allele Identifier: CA2609134681

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472297-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472301_49472302del , CM000672.2:g.49472301_49472302del	GRCh38
NC_000010.10:g.50680347_50680348del , CM000672.1:g.50680347_50680348del	GRCh37
NC_000010.9:g.50350353_50350354del	NCBI36
NG_009442.1:g.71803_71804del , LRG_465:g.71803_71804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2924+77_2924+78del MANE Select	ENSP00000348089.5:n.2924+77_2924+78del
ENST00000681632.1:n.4327+77_4327+78del
ENST00000681659.1:c.2765+77_2765+78del	ENSP00000505631.1:n.2765+77_2765+78del
ENST00000355832.9:c.2924+77_2924+78del	ENSP00000348089.5:n.2924+77_2924+78del
ENST00000623073.3:c.*1220+77_*1220+78del	ENSP00000485650.1:n.*1220+77_*1220+78del
ENST00000623115.3:c.1034+77_1034+78del	ENSP00000485321.1:n.1034+77_1034+78del
ENST00000624341.3:c.756+77_756+78del
NM_000124.3:c.2924+77_2924+78del	NP_000115.1:n.2924+77_2924+78del
XR_945953.1:n.689+290_689+291del
NM_001346440.1:c.2924+77_2924+78del	NP_001333369.1:n.2924+77_2924+78del
NM_000124.4:c.2924+77_2924+78del MANE Select	NP_000115.1:n.2924+77_2924+78del
NM_001346440.2:c.2924+77_2924+78del	NP_001333369.1:n.2924+77_2924+78del