Canonical Allele Identifier: CA1908763973

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524506_49524524delinsCACTGGGGCTGGAGGCGTG , CM000672.2:g.49524506_49524524delinsCACTGGGGCTGGAGGCGTG	GRCh38
NC_000010.10:g.50732552_50732570delinsCACTGGGGCTGGAGGCGTG , CM000672.1:g.50732552_50732570delinsCACTGGGGCTGGAGGCGTG	GRCh37
NC_000010.9:g.50402558_50402576delinsCACTGGGGCTGGAGGCGTG	NCBI36
NG_009442.1:g.19578_19596delinsCACGCCTCCAGCCCCAGTG , LRG_465:g.19578_19596delinsCACGCCTCCAGCCCCAGTG
NG_033155.1:g.4758_4776delinsCACGCCTCCAGCCCCAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.906_924delinsCACGCCTCCAGCCCCAGTG MANE Select	ENSP00000348089.5:p.Val302=
ENST00000447839.7:c.906_924delinsCACGCCTCCAGCCCCAGTG MANE Plus Clinical	ENSP00000387966.2:p.Val302=
ENST00000679596.1:c.*535_*553delinsCACGCCTCCAGCCCCAGTG	ENSP00000504862.1:n.*535_*553delinsCACGCCTCCAGCCCCAGTG
ENST00000679811.1:n.989_1007delinsCACGCCTCCAGCCCCAGTG
ENST00000680107.1:c.652+3893_652+3911delinsCACGCCTCCAGCCCCAGTG	ENSP00000505909.1:n.652+3893_652+3911delinsCACGCCTCCAGCCCCAGT...
ENST00000680233.1:n.999_1017delinsCACGCCTCCAGCCCCAGTG
ENST00000681632.1:n.984_1002delinsCACGCCTCCAGCCCCAGTG
ENST00000681659.1:c.906_924delinsCACGCCTCCAGCCCCAGTG	ENSP00000505631.1:p.Val302=
ENST00000355832.9:c.906_924delinsCACGCCTCCAGCCCCAGTG	ENSP00000348089.5:p.Val302=
ENST00000447839.6:c.906_924delinsCACGCCTCCAGCCCCAGTG	ENSP00000387966.2:p.Val302=
ENST00000515869.1:c.906_924delinsCACGCCTCCAGCCCCAGTG	ENSP00000423550.1:p.Val302=
NM_000124.3:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_000115.1:p.Val302=
NM_001277058.1:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_001263987.1:p.Val302=
NM_001277059.1:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_001263988.1:p.Val302=
NM_001346440.1:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_001333369.1:p.Val302=
NM_000124.4:c.906_924delinsCACGCCTCCAGCCCCAGTG MANE Select	NP_000115.1:p.Val302=
NM_001277058.2:c.906_924delinsCACGCCTCCAGCCCCAGTG MANE Plus Clinical	NP_001263987.1:p.Val302=
NM_001277059.2:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_001263988.1:p.Val302=
NM_001346440.2:c.906_924delinsCACGCCTCCAGCCCCAGTG	NP_001333369.1:p.Val302=