Canonical Allele Identifier: CA2574544853

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461621_49461626del , CM000672.2:g.49461621_49461626del	GRCh38
NC_000010.10:g.50669667_50669672del , CM000672.1:g.50669667_50669672del	GRCh37
NC_000010.9:g.50339673_50339678del	NCBI36
NG_009442.1:g.82477_82482del , LRG_465:g.82477_82482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-69_3779-64del MANE Select	ENSP00000348089.5:n.3779-69_3779-64del
ENST00000679552.1:n.850-69_850-64del
ENST00000679871.1:n.925-69_925-64del
ENST00000679974.1:n.828-69_828-64del
ENST00000681632.1:n.5182-69_5182-64del
ENST00000681659.1:c.3620-69_3620-64del	ENSP00000505631.1:n.3620-69_3620-64del
ENST00000355832.9:c.3779-69_3779-64del	ENSP00000348089.5:n.3779-69_3779-64del
ENST00000465653.1:n.101-69_101-64del
ENST00000623073.3:c.*2075-69_*2075-64del	ENSP00000485650.1:n.*2075-69_*2075-64del
ENST00000623115.3:c.1889-69_1889-64del	ENSP00000485321.1:n.1889-69_1889-64del
ENST00000624341.3:c.1611-69_1611-64del
NM_000124.3:c.3779-69_3779-64del	NP_000115.1:n.3779-69_3779-64del
XR_945953.1:n.243-9944_243-9939del
NM_001346440.1:c.3779-69_3779-64del	NP_001333369.1:n.3779-69_3779-64del
NM_000124.4:c.3779-69_3779-64del MANE Select	NP_000115.1:n.3779-69_3779-64del
NM_001346440.2:c.3779-69_3779-64del	NP_001333369.1:n.3779-69_3779-64del