Canonical Allele Identifier: CA1908749758

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471195_49471199delinsAAGAG , CM000672.2:g.49471195_49471199delinsAAGAG	GRCh38
NC_000010.10:g.50679241_50679245delinsAAGAG , CM000672.1:g.50679241_50679245delinsAAGAG	GRCh37
NC_000010.9:g.50349247_50349251delinsAAGAG	NCBI36
NG_009442.1:g.72903_72907delinsCTCTT , LRG_465:g.72903_72907delinsCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-79_2925-75delinsCTCTT MANE Select	ENSP00000348089.5:n.2925-79_2925-75delinsCTCTT
ENST00000679552.1:n.142-310_142-306delinsCTCTT
ENST00000679871.1:n.71-79_71-75delinsCTCTT
ENST00000679974.1:n.120-310_120-306delinsCTCTT
ENST00000681632.1:n.4328-79_4328-75delinsCTCTT
ENST00000681659.1:c.2766-79_2766-75delinsCTCTT	ENSP00000505631.1:n.2766-79_2766-75delinsCTCTT
ENST00000355832.9:c.2925-79_2925-75delinsCTCTT	ENSP00000348089.5:n.2925-79_2925-75delinsCTCTT
ENST00000623073.3:c.*1221-79_*1221-75delinsCTCTT	ENSP00000485650.1:n.*1221-79_*1221-75delinsCTCTT
ENST00000623115.3:c.1035-79_1035-75delinsCTCTT	ENSP00000485321.1:n.1035-79_1035-75delinsCTCTT
ENST00000624341.3:c.757-79_757-75delinsCTCTT
NM_000124.3:c.2925-79_2925-75delinsCTCTT	NP_000115.1:n.2925-79_2925-75delinsCTCTT
XR_945953.1:n.243-370_243-366delinsAAGAG
NM_001346440.1:c.2925-79_2925-75delinsCTCTT	NP_001333369.1:n.2925-79_2925-75delinsCTCTT
NM_000124.4:c.2925-79_2925-75delinsCTCTT MANE Select	NP_000115.1:n.2925-79_2925-75delinsCTCTT
NM_001346440.2:c.2925-79_2925-75delinsCTCTT	NP_001333369.1:n.2925-79_2925-75delinsCTCTT