Canonical Allele Identifier: CA2609134265

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470743-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470746del , CM000672.2:g.49470746del	GRCh38
NC_000010.10:g.50678792del , CM000672.1:g.50678792del	GRCh37
NC_000010.9:g.50348798del	NCBI36
NG_009442.1:g.73358del , LRG_465:g.73358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3216del MANE Select	ENSP00000348089.5:p.Lys1072AsnfsTer9
ENST00000679552.1:n.287del
ENST00000679871.1:n.362del
ENST00000679974.1:n.265del
ENST00000681632.1:n.4619del
ENST00000681659.1:c.3057del	ENSP00000505631.1:p.Lys1019AsnfsTer9
ENST00000355832.9:c.3216del	ENSP00000348089.5:p.Lys1072AsnfsTer9
ENST00000623073.3:c.*1512del	ENSP00000485650.1:n.*1512del
ENST00000623115.3:c.1326del	ENSP00000485321.1:p.Lys442AsnfsTer9
ENST00000624341.3:c.1048del
NM_000124.3:c.3216del	NP_000115.1:p.Lys1072AsnfsTer9
XR_945953.1:n.243-819del
NM_001346440.1:c.3216del	NP_001333369.1:p.Lys1072AsnfsTer9
NM_000124.4:c.3216del MANE Select	NP_000115.1:p.Lys1072AsnfsTer9
NM_001346440.2:c.3216del	NP_001333369.1:p.Lys1072AsnfsTer9