Canonical Allele Identifier: CA2787928496

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461639_49461640insACAT , CM000672.2:g.49461639_49461640insACAT	GRCh38
NC_000010.10:g.50669685_50669686insACAT , CM000672.1:g.50669685_50669686insACAT	GRCh37
NC_000010.9:g.50339691_50339692insACAT	NCBI36
NG_009442.1:g.82462_82463insATGT , LRG_465:g.82462_82463insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-84_3779-83insATGT MANE Select	ENSP00000348089.5:n.3779-84_3779-83insATGT
ENST00000679552.1:n.850-84_850-83insATGT
ENST00000679871.1:n.925-84_925-83insATGT
ENST00000679974.1:n.828-84_828-83insATGT
ENST00000681632.1:n.5182-84_5182-83insATGT
ENST00000681659.1:c.3620-84_3620-83insATGT	ENSP00000505631.1:n.3620-84_3620-83insATGT
ENST00000355832.9:c.3779-84_3779-83insATGT	ENSP00000348089.5:n.3779-84_3779-83insATGT
ENST00000465653.1:n.101-84_101-83insATGT
ENST00000623073.3:c.*2075-84_*2075-83insATGT	ENSP00000485650.1:n.*2075-84_*2075-83insATGT
ENST00000623115.3:c.1889-84_1889-83insATGT	ENSP00000485321.1:n.1889-84_1889-83insATGT
ENST00000624341.3:c.1611-84_1611-83insATGT
NM_000124.3:c.3779-84_3779-83insATGT	NP_000115.1:n.3779-84_3779-83insATGT
XR_945953.1:n.243-9926_243-9925insACAT
NM_001346440.1:c.3779-84_3779-83insATGT	NP_001333369.1:n.3779-84_3779-83insATGT
NM_000124.4:c.3779-84_3779-83insATGT MANE Select	NP_000115.1:n.3779-84_3779-83insATGT
NM_001346440.2:c.3779-84_3779-83insATGT	NP_001333369.1:n.3779-84_3779-83insATGT