Canonical Allele Identifier: CA1908749700

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471053_49471054delinsAT , CM000672.2:g.49471053_49471054delinsAT	GRCh38
NC_000010.10:g.50679099_50679100delinsAT , CM000672.1:g.50679099_50679100delinsAT	GRCh37
NC_000010.9:g.50349105_50349106delinsAT	NCBI36
NG_009442.1:g.73048_73049delinsAT , LRG_465:g.73048_73049delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2991_2992delinsAT MANE Select	ENSP00000348089.5:p.Lys997=
ENST00000679552.1:n.142-165_142-164delinsAT
ENST00000679871.1:n.137_138delinsAT
ENST00000679974.1:n.120-165_120-164delinsAT
ENST00000681632.1:n.4394_4395delinsAT
ENST00000681659.1:c.2832_2833delinsAT	ENSP00000505631.1:p.Lys944=
ENST00000355832.9:c.2991_2992delinsAT	ENSP00000348089.5:p.Lys997=
ENST00000623073.3:c.*1287_*1288delinsAT	ENSP00000485650.1:n.*1287_*1288delinsAT
ENST00000623115.3:c.1101_1102delinsAT	ENSP00000485321.1:p.Lys367=
ENST00000624341.3:c.823_824delinsAT
NM_000124.3:c.2991_2992delinsAT	NP_000115.1:p.Lys997=
XR_945953.1:n.243-512_243-511delinsAT
NM_001346440.1:c.2991_2992delinsAT	NP_001333369.1:p.Lys997=
NM_000124.4:c.2991_2992delinsAT MANE Select	NP_000115.1:p.Lys997=
NM_001346440.2:c.2991_2992delinsAT	NP_001333369.1:p.Lys997=