Canonical Allele Identifier: CA1908770306

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49528340_49528345delinsAAAGAG , CM000672.2:g.49528340_49528345delinsAAAGAG	GRCh38
NC_000010.10:g.50736386_50736391delinsAAAGAG , CM000672.1:g.50736386_50736391delinsAAAGAG	GRCh37
NC_000010.9:g.50406392_50406397delinsAAAGAG	NCBI36
NG_009442.1:g.15757_15762delinsCTCTTT , LRG_465:g.15757_15762delinsCTCTTT
NG_033155.1:g.937_942delinsCTCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.652+72_652+77delinsCTCTTT MANE Select	ENSP00000348089.5:n.652+72_652+77delinsCTCTTT
ENST00000447839.7:c.652+72_652+77delinsCTCTTT MANE Plus Clinical	ENSP00000387966.2:n.652+72_652+77delinsCTCTTT
ENST00000679596.1:c.*281+72_*281+77delinsCTCTTT	ENSP00000504862.1:n.*281+72_*281+77delinsCTCTTT
ENST00000679811.1:n.735+72_735+77delinsCTCTTT
ENST00000680107.1:c.652+72_652+77delinsCTCTTT	ENSP00000505909.1:n.652+72_652+77delinsCTCTTT
ENST00000680233.1:n.745+72_745+77delinsCTCTTT
ENST00000681632.1:n.730+72_730+77delinsCTCTTT
ENST00000681659.1:c.652+72_652+77delinsCTCTTT	ENSP00000505631.1:n.652+72_652+77delinsCTCTTT
ENST00000355832.9:c.652+72_652+77delinsCTCTTT	ENSP00000348089.5:n.652+72_652+77delinsCTCTTT
ENST00000447839.6:c.652+72_652+77delinsCTCTTT	ENSP00000387966.2:n.652+72_652+77delinsCTCTTT
ENST00000479652.1:n.127+72_127+77delinsCTCTTT
ENST00000515869.1:c.652+72_652+77delinsCTCTTT	ENSP00000423550.1:n.652+72_652+77delinsCTCTTT
NM_000124.3:c.652+72_652+77delinsCTCTTT	NP_000115.1:n.652+72_652+77delinsCTCTTT
NM_001277058.1:c.652+72_652+77delinsCTCTTT	NP_001263987.1:n.652+72_652+77delinsCTCTTT
NM_001277059.1:c.652+72_652+77delinsCTCTTT	NP_001263988.1:n.652+72_652+77delinsCTCTTT
NM_001346440.1:c.652+72_652+77delinsCTCTTT	NP_001333369.1:n.652+72_652+77delinsCTCTTT
NM_000124.4:c.652+72_652+77delinsCTCTTT MANE Select	NP_000115.1:n.652+72_652+77delinsCTCTTT
NM_001277058.2:c.652+72_652+77delinsCTCTTT MANE Plus Clinical	NP_001263987.1:n.652+72_652+77delinsCTCTTT
NM_001277059.2:c.652+72_652+77delinsCTCTTT	NP_001263988.1:n.652+72_652+77delinsCTCTTT
NM_001346440.2:c.652+72_652+77delinsCTCTTT	NP_001333369.1:n.652+72_652+77delinsCTCTTT