Canonical Allele Identifier: CA2741093135
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49459258_49459259insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA , CM000672.2:g.49459258_49459259insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA GRCh38
NC_000010.10:g.50667304_50667305insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA , CM000672.1:g.50667304_50667305insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA GRCh37
NC_000010.9:g.50337310_50337311insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA NCBI36
NG_009442.1:g.84843_84844insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA , LRG_465:g.84843_84844insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA MANE Select ENSP00000348089.5:n.4063-25_4063-24insTCA...
ENST00000679552.1:n.2247_2248insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA
ENST00000679871.1:n.1209-25_1209-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA
ENST00000679974.1:n.1112-25_1112-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA
ENST00000681632.1:n.5466-25_5466-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA
ENST00000681659.1:c.3904-25_3904-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA ENSP00000505631.1:n.3904-25_3904-24insTCA...
ENST00000355832.9:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA ENSP00000348089.5:n.4063-25_4063-24insTCA...
ENST00000623073.3:c.*2359-25_*2359-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA ENSP00000485650.1:n.*2359-25_*2359-24insT...
ENST00000623115.3:c.2173-25_2173-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA ENSP00000485321.1:n.2173-25_2173-24insTCA...
ENST00000624341.3:c.1895-25_1895-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA
NM_000124.3:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA NP_000115.1:n.4063-25_4063-24insTCACATGTT...
XR_945953.1:n.243-12307_243-12306insTACTCTATTACAGTCATCATCACACTGCAGTAAAACCACCAACATGTGA
NM_001346440.1:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA NP_001333369.1:n.4063-25_4063-24insTCACAT...
NM_000124.4:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA MANE Select NP_000115.1:n.4063-25_4063-24insTCACATGTT...
NM_001346440.2:c.4063-25_4063-24insTCACATGTTGGTGGTTTTACTGCAGTGTGATGATGACTGTAATAGAGTA NP_001333369.1:n.4063-25_4063-24insTCACAT...