Canonical Allele Identifier: CA1908745591

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461653_49461655delinsCAA , CM000672.2:g.49461653_49461655delinsCAA	GRCh38
NC_000010.10:g.50669699_50669701delinsCAA , CM000672.1:g.50669699_50669701delinsCAA	GRCh37
NC_000010.9:g.50339705_50339707delinsCAA	NCBI36
NG_009442.1:g.82447_82449delinsTTG , LRG_465:g.82447_82449delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-99_3779-97delinsTTG MANE Select	ENSP00000348089.5:n.3779-99_3779-97delinsTTG
ENST00000679552.1:n.850-99_850-97delinsTTG
ENST00000679871.1:n.925-99_925-97delinsTTG
ENST00000679974.1:n.828-99_828-97delinsTTG
ENST00000681632.1:n.5182-99_5182-97delinsTTG
ENST00000681659.1:c.3620-99_3620-97delinsTTG	ENSP00000505631.1:n.3620-99_3620-97delinsTTG
ENST00000355832.9:c.3779-99_3779-97delinsTTG	ENSP00000348089.5:n.3779-99_3779-97delinsTTG
ENST00000465653.1:n.101-99_101-97delinsTTG
ENST00000623073.3:c.*2075-99_*2075-97delinsTTG	ENSP00000485650.1:n.*2075-99_*2075-97delinsTTG
ENST00000623115.3:c.1889-99_1889-97delinsTTG	ENSP00000485321.1:n.1889-99_1889-97delinsTTG
ENST00000624341.3:c.1611-99_1611-97delinsTTG
NM_000124.3:c.3779-99_3779-97delinsTTG	NP_000115.1:n.3779-99_3779-97delinsTTG
XR_945953.1:n.243-9912_243-9910delinsCAA
NM_001346440.1:c.3779-99_3779-97delinsTTG	NP_001333369.1:n.3779-99_3779-97delinsTTG
NM_000124.4:c.3779-99_3779-97delinsTTG MANE Select	NP_000115.1:n.3779-99_3779-97delinsTTG
NM_001346440.2:c.3779-99_3779-97delinsTTG	NP_001333369.1:n.3779-99_3779-97delinsTTG