Canonical Allele Identifier: CA1908745582

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461633_49461634delinsAG , CM000672.2:g.49461633_49461634delinsAG	GRCh38
NC_000010.10:g.50669679_50669680delinsAG , CM000672.1:g.50669679_50669680delinsAG	GRCh37
NC_000010.9:g.50339685_50339686delinsAG	NCBI36
NG_009442.1:g.82468_82469delinsCT , LRG_465:g.82468_82469delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-78_3779-77delinsCT MANE Select	ENSP00000348089.5:n.3779-78_3779-77delinsCT
ENST00000679552.1:n.850-78_850-77delinsCT
ENST00000679871.1:n.925-78_925-77delinsCT
ENST00000679974.1:n.828-78_828-77delinsCT
ENST00000681632.1:n.5182-78_5182-77delinsCT
ENST00000681659.1:c.3620-78_3620-77delinsCT	ENSP00000505631.1:n.3620-78_3620-77delinsCT
ENST00000355832.9:c.3779-78_3779-77delinsCT	ENSP00000348089.5:n.3779-78_3779-77delinsCT
ENST00000465653.1:n.101-78_101-77delinsCT
ENST00000623073.3:c.*2075-78_*2075-77delinsCT	ENSP00000485650.1:n.*2075-78_*2075-77delinsCT
ENST00000623115.3:c.1889-78_1889-77delinsCT	ENSP00000485321.1:n.1889-78_1889-77delinsCT
ENST00000624341.3:c.1611-78_1611-77delinsCT
NM_000124.3:c.3779-78_3779-77delinsCT	NP_000115.1:n.3779-78_3779-77delinsCT
XR_945953.1:n.243-9932_243-9931delinsAG
NM_001346440.1:c.3779-78_3779-77delinsCT	NP_001333369.1:n.3779-78_3779-77delinsCT
NM_000124.4:c.3779-78_3779-77delinsCT MANE Select	NP_000115.1:n.3779-78_3779-77delinsCT
NM_001346440.2:c.3779-78_3779-77delinsCT	NP_001333369.1:n.3779-78_3779-77delinsCT