Canonical Allele Identifier: CA1908773513
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49530603_49530609delinsGTAATTA , CM000672.2:g.49530603_49530609delinsGTAATTA GRCh38
NC_000010.10:g.50738649_50738655delinsGTAATTA , CM000672.1:g.50738649_50738655delinsGTAATTA GRCh37
NC_000010.9:g.50408655_50408661delinsGTAATTA NCBI36
NG_009442.1:g.13493_13499delinsTAATTAC , LRG_465:g.13493_13499delinsTAATTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.543+111_543+117delinsTAATTAC MANE Select ENSP00000348089.5:n.543+111_543+117delinsTAATTAC
ENST00000447839.7:c.543+111_543+117delinsTAATTAC MANE Plus Clinical ENSP00000387966.2:n.543+111_543+117delinsTAATTAC
ENST00000679596.1:c.*172+1934_*172+1940delinsTAATTAC ENSP00000504862.1:n.*172+1934_*172+1940delinsTAATTAC
ENST00000679811.1:n.626+111_626+117delinsTAATTAC
ENST00000680107.1:c.543+111_543+117delinsTAATTAC ENSP00000505909.1:n.543+111_543+117delinsTAATTAC
ENST00000680233.1:n.636+111_636+117delinsTAATTAC
ENST00000681632.1:n.621+111_621+117delinsTAATTAC
ENST00000681659.1:c.543+111_543+117delinsTAATTAC ENSP00000505631.1:n.543+111_543+117delinsTAATTAC
ENST00000355832.9:c.543+111_543+117delinsTAATTAC ENSP00000348089.5:n.543+111_543+117delinsTAATTAC
ENST00000447839.6:c.543+111_543+117delinsTAATTAC ENSP00000387966.2:n.543+111_543+117delinsTAATTAC
ENST00000479652.1:n.18+111_18+117delinsTAATTAC
ENST00000515869.1:c.543+111_543+117delinsTAATTAC ENSP00000423550.1:n.543+111_543+117delinsTAATTAC
NM_000124.3:c.543+111_543+117delinsTAATTAC NP_000115.1:n.543+111_543+117delinsTAATTAC
NM_001277058.1:c.543+111_543+117delinsTAATTAC NP_001263987.1:n.543+111_543+117delinsTAATTAC
NM_001277059.1:c.543+111_543+117delinsTAATTAC NP_001263988.1:n.543+111_543+117delinsTAATTAC
NM_001346440.1:c.543+111_543+117delinsTAATTAC NP_001333369.1:n.543+111_543+117delinsTAATTAC
NM_000124.4:c.543+111_543+117delinsTAATTAC MANE Select NP_000115.1:n.543+111_543+117delinsTAATTAC
NM_001277058.2:c.543+111_543+117delinsTAATTAC MANE Plus Clinical NP_001263987.1:n.543+111_543+117delinsTAATTAC
NM_001277059.2:c.543+111_543+117delinsTAATTAC NP_001263988.1:n.543+111_543+117delinsTAATTAC
NM_001346440.2:c.543+111_543+117delinsTAATTAC NP_001333369.1:n.543+111_543+117delinsTAATTAC