Canonical Allele Identifier: CA912969886

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732552_50732570del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524506_49524524del , CM000672.2:g.49524506_49524524del	GRCh38
NC_000010.10:g.50732552_50732570del , CM000672.1:g.50732552_50732570del	GRCh37
NC_000010.9:g.50402558_50402576del	NCBI36
NG_009442.1:g.19580_19598del , LRG_465:g.19580_19598del
NG_033155.1:g.4760_4778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.908_926del MANE Select	ENSP00000348089.5:p.Thr303LysfsTer20
ENST00000447839.7:c.908_926del MANE Plus Clinical	ENSP00000387966.2:p.Thr303LysfsTer20
ENST00000679596.1:c.*537_*555del	ENSP00000504862.1:n.*537_*555del
ENST00000679811.1:n.991_1009del
ENST00000680107.1:c.652+3895_652+3913del	ENSP00000505909.1:n.652+3895_652+3913del
ENST00000680233.1:n.1001_1019del
ENST00000681632.1:n.986_1004del
ENST00000681659.1:c.908_926del	ENSP00000505631.1:p.Thr303LysfsTer20
ENST00000355832.9:c.908_926del	ENSP00000348089.5:p.Thr303LysfsTer20
ENST00000447839.6:c.908_926del	ENSP00000387966.2:p.Thr303LysfsTer20
ENST00000515869.1:c.908_926del	ENSP00000423550.1:p.Thr303LysfsTer20
NM_000124.3:c.908_926del	NP_000115.1:p.Thr303LysfsTer20
NM_001277058.1:c.908_926del	NP_001263987.1:p.Thr303LysfsTer20
NM_001277059.1:c.908_926del	NP_001263988.1:p.Thr303LysfsTer20
NM_001346440.1:c.908_926del	NP_001333369.1:p.Thr303LysfsTer20
NM_000124.4:c.908_926del MANE Select	NP_000115.1:p.Thr303LysfsTer20
NM_001277058.2:c.908_926del MANE Plus Clinical	NP_001263987.1:p.Thr303LysfsTer20
NM_001277059.2:c.908_926del	NP_001263988.1:p.Thr303LysfsTer20
NM_001346440.2:c.908_926del	NP_001333369.1:p.Thr303LysfsTer20