Canonical Allele Identifier: CA645548748

Gene: ERCC6

Linked Data

• COSMIC: COSM1702348

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470466_49470467delinsAA , CM000672.2:g.49470466_49470467delinsAA	GRCh38
NC_000010.10:g.50678512_50678513delinsAA , CM000672.1:g.50678512_50678513delinsAA	GRCh37
NC_000010.9:g.50348518_50348519delinsAA	NCBI36
NG_009442.1:g.73635_73636delinsTT , LRG_465:g.73635_73636delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3493_3494delinsTT MANE Select	ENSP00000348089.5:p.Thr1165Leu
ENST00000679552.1:n.564_565delinsTT
ENST00000679871.1:n.639_640delinsTT
ENST00000679974.1:n.542_543delinsTT
ENST00000681632.1:n.4896_4897delinsTT
ENST00000681659.1:c.3334_3335delinsTT	ENSP00000505631.1:p.Thr1112Leu
ENST00000355832.9:c.3493_3494delinsTT	ENSP00000348089.5:p.Thr1165Leu
ENST00000623073.3:c.*1789_*1790delinsTT	ENSP00000485650.1:n.*1789_*1790delinsTT
ENST00000623115.3:c.1603_1604delinsTT	ENSP00000485321.1:p.Thr535Leu
ENST00000624341.3:c.1325_1326delinsTT
NM_000124.3:c.3493_3494delinsTT	NP_000115.1:p.Thr1165Leu
XR_945953.1:n.243-1099_243-1098delinsAA
NM_001346440.1:c.3493_3494delinsTT	NP_001333369.1:p.Thr1165Leu
NM_000124.4:c.3493_3494delinsTT MANE Select	NP_000115.1:p.Thr1165Leu
NM_001346440.2:c.3493_3494delinsTT	NP_001333369.1:p.Thr1165Leu