Canonical Allele Identifier: CA2580081582

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1942824
• ClinVar RCV Id: RCV002646994

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461571_49461572delinsTT , CM000672.2:g.49461571_49461572delinsTT	GRCh38
NC_000010.10:g.50669617_50669618delinsTT , CM000672.1:g.50669617_50669618delinsTT	GRCh37
NC_000010.9:g.50339623_50339624delinsTT	NCBI36
NG_009442.1:g.82530_82531delinsAA , LRG_465:g.82530_82531delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-16_3779-15delinsAA MANE Select	ENSP00000348089.5:n.3779-16_3779-15delinsAA
ENST00000679552.1:n.850-16_850-15delinsAA
ENST00000679871.1:n.925-16_925-15delinsAA
ENST00000679974.1:n.828-16_828-15delinsAA
ENST00000681632.1:n.5182-16_5182-15delinsAA
ENST00000681659.1:c.3620-16_3620-15delinsAA	ENSP00000505631.1:n.3620-16_3620-15delinsAA
ENST00000355832.9:c.3779-16_3779-15delinsAA	ENSP00000348089.5:n.3779-16_3779-15delinsAA
ENST00000465653.1:n.101-16_101-15delinsAA
ENST00000623073.3:c.*2075-16_*2075-15delinsAA	ENSP00000485650.1:n.*2075-16_*2075-15delinsAA
ENST00000623115.3:c.1889-16_1889-15delinsAA	ENSP00000485321.1:n.1889-16_1889-15delinsAA
ENST00000624341.3:c.1611-16_1611-15delinsAA
NM_000124.3:c.3779-16_3779-15delinsAA	NP_000115.1:n.3779-16_3779-15delinsAA
XR_945953.1:n.243-9994_243-9993delinsTT
NM_001346440.1:c.3779-16_3779-15delinsAA	NP_001333369.1:n.3779-16_3779-15delinsAA
NM_000124.4:c.3779-16_3779-15delinsAA MANE Select	NP_000115.1:n.3779-16_3779-15delinsAA
NM_001346440.2:c.3779-16_3779-15delinsAA	NP_001333369.1:n.3779-16_3779-15delinsAA