Canonical Allele Identifier: CA2695212001

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524494_49524495delinsC , CM000672.2:g.49524494_49524495delinsC	GRCh38
NC_000010.10:g.50732540_50732541delinsC , CM000672.1:g.50732540_50732541delinsC	GRCh37
NC_000010.9:g.50402546_50402547delinsC	NCBI36
NG_009442.1:g.19607_19608delinsG , LRG_465:g.19607_19608delinsG
NG_033155.1:g.4787_4788delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.935_936delinsG MANE Select	ENSP00000348089.5:p.Asn312ArgfsTer17
ENST00000447839.7:c.935_936delinsG MANE Plus Clinical	ENSP00000387966.2:p.Asn312ArgfsTer17
ENST00000679596.1:c.*564_*565delinsG	ENSP00000504862.1:n.*564_*565delinsG
ENST00000679811.1:n.1018_1019delinsG
ENST00000680107.1:c.652+3922_652+3923delinsG	ENSP00000505909.1:n.652+3922_652+3923delinsG
ENST00000680233.1:n.1028_1029delinsG
ENST00000681632.1:n.1013_1014delinsG
ENST00000681659.1:c.935_936delinsG	ENSP00000505631.1:p.Asn312ArgfsTer17
ENST00000355832.9:c.935_936delinsG	ENSP00000348089.5:p.Asn312ArgfsTer17
ENST00000447839.6:c.935_936delinsG	ENSP00000387966.2:p.Asn312ArgfsTer17
ENST00000515869.1:c.935_936delinsG	ENSP00000423550.1:p.Asn312ArgfsTer17
NM_000124.3:c.935_936delinsG	NP_000115.1:p.Asn312ArgfsTer17
NM_001277058.1:c.935_936delinsG	NP_001263987.1:p.Asn312ArgfsTer17
NM_001277059.1:c.935_936delinsG	NP_001263988.1:p.Asn312ArgfsTer17
NM_001346440.1:c.935_936delinsG	NP_001333369.1:p.Asn312ArgfsTer17
NM_000124.4:c.935_936delinsG MANE Select	NP_000115.1:p.Asn312ArgfsTer17
NM_001277058.2:c.935_936delinsG MANE Plus Clinical	NP_001263987.1:p.Asn312ArgfsTer17
NM_001277059.2:c.935_936delinsG	NP_001263988.1:p.Asn312ArgfsTer17
NM_001346440.2:c.935_936delinsG	NP_001333369.1:p.Asn312ArgfsTer17