Canonical Allele Identifier: CA2740092989

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 3022906
• ClinVar RCV Id: RCV003882092

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460359del , CM000672.2:g.49460359del	GRCh38
NC_000010.10:g.50668405del , CM000672.1:g.50668405del	GRCh37
NC_000010.9:g.50338411del	NCBI36
NG_009442.1:g.83744del , LRG_465:g.83744del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+15del MANE Select	ENSP00000348089.5:n.4062+15del
ENST00000679552.1:n.1148del
ENST00000679871.1:n.1208+15del
ENST00000679974.1:n.1111+15del
ENST00000681632.1:n.5465+15del
ENST00000681659.1:c.3903+15del	ENSP00000505631.1:n.3903+15del
ENST00000355832.9:c.4062+15del	ENSP00000348089.5:n.4062+15del
ENST00000465653.1:n.399del
ENST00000623073.3:c.*2358+15del	ENSP00000485650.1:n.*2358+15del
ENST00000623115.3:c.2172+15del	ENSP00000485321.1:n.2172+15del
ENST00000624341.3:c.1894+15del
NM_000124.3:c.4062+15del	NP_000115.1:n.4062+15del
XR_945953.1:n.243-11206del
NM_001346440.1:c.4062+15del	NP_001333369.1:n.4062+15del
NM_000124.4:c.4062+15del MANE Select	NP_000115.1:n.4062+15del
NM_001346440.2:c.4062+15del	NP_001333369.1:n.4062+15del