Canonical Allele Identifier: CA1908745486

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461430_49461455delinsTGACGAGAGAGCCTCAGTGCTTTCAG , CM000672.2:g.49461430_49461455delinsTGACGAGAGAGCCTCAGTGCTTTCAG	GRCh38
NC_000010.10:g.50669476_50669501delinsTGACGAGAGAGCCTCAGTGCTTTCAG , CM000672.1:g.50669476_50669501delinsTGACGAGAGAGCCTCAGTGCTTTCAG	GRCh37
NC_000010.9:g.50339482_50339507delinsTGACGAGAGAGCCTCAGTGCTTTCAG	NCBI36
NG_009442.1:g.82647_82672delinsCTGAAAGCACTGAGGCTCTCTCGTCA , LRG_465:g.82647_82672delinsCTGAAAGCACTGAGGCTCTCTCGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA MANE Select	ENSP00000348089.5:p.Leu1294=
ENST00000679552.1:n.951_976delinsCTGAAAGCACTGAGGCTCTCTCGTCA
ENST00000679871.1:n.1026_1051delinsCTGAAAGCACTGAGGCTCTCTCGTCA
ENST00000679974.1:n.929_954delinsCTGAAAGCACTGAGGCTCTCTCGTCA
ENST00000681632.1:n.5283_5308delinsCTGAAAGCACTGAGGCTCTCTCGTCA
ENST00000681659.1:c.3721_3746delinsCTGAAAGCACTGAGGCTCTCTCGTCA	ENSP00000505631.1:p.Leu1241=
ENST00000355832.9:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA	ENSP00000348089.5:p.Leu1294=
ENST00000465653.1:n.202_227delinsCTGAAAGCACTGAGGCTCTCTCGTCA
ENST00000623073.3:c.*2176_*2201delinsCTGAAAGCACTGAGGCTCTCTCGTCA	ENSP00000485650.1:n.*2176_*2201delinsCTGAAAGCACTGAGGCTCTCTCGT...
ENST00000623115.3:c.1990_2015delinsCTGAAAGCACTGAGGCTCTCTCGTCA	ENSP00000485321.1:p.Leu664=
ENST00000624341.3:c.1712_1737delinsCTGAAAGCACTGAGGCTCTCTCGTCA
NM_000124.3:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA	NP_000115.1:p.Leu1294=
XR_945953.1:n.243-10135_243-10110delinsTGACGAGAGAGCCTCAGTGCTTTCAG
NM_001346440.1:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA	NP_001333369.1:p.Leu1294=
NM_000124.4:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA MANE Select	NP_000115.1:p.Leu1294=
NM_001346440.2:c.3880_3905delinsCTGAAAGCACTGAGGCTCTCTCGTCA	NP_001333369.1:p.Leu1294=