Canonical Allele Identifier: CA1908749731

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471129_49471130delinsAT , CM000672.2:g.49471129_49471130delinsAT	GRCh38
NC_000010.10:g.50679175_50679176delinsAT , CM000672.1:g.50679175_50679176delinsAT	GRCh37
NC_000010.9:g.50349181_50349182delinsAT	NCBI36
NG_009442.1:g.72972_72973delinsAT , LRG_465:g.72972_72973delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-10_2925-9delinsAT MANE Select	ENSP00000348089.5:n.2925-10_2925-9delinsAT
ENST00000679552.1:n.142-241_142-240delinsAT
ENST00000679871.1:n.71-10_71-9delinsAT
ENST00000679974.1:n.120-241_120-240delinsAT
ENST00000681632.1:n.4328-10_4328-9delinsAT
ENST00000681659.1:c.2766-10_2766-9delinsAT	ENSP00000505631.1:n.2766-10_2766-9delinsAT
ENST00000355832.9:c.2925-10_2925-9delinsAT	ENSP00000348089.5:n.2925-10_2925-9delinsAT
ENST00000623073.3:c.*1221-10_*1221-9delinsAT	ENSP00000485650.1:n.*1221-10_*1221-9delinsAT
ENST00000623115.3:c.1035-10_1035-9delinsAT	ENSP00000485321.1:n.1035-10_1035-9delinsAT
ENST00000624341.3:c.757-10_757-9delinsAT
NM_000124.3:c.2925-10_2925-9delinsAT	NP_000115.1:n.2925-10_2925-9delinsAT
XR_945953.1:n.243-436_243-435delinsAT
NM_001346440.1:c.2925-10_2925-9delinsAT	NP_001333369.1:n.2925-10_2925-9delinsAT
NM_000124.4:c.2925-10_2925-9delinsAT MANE Select	NP_000115.1:n.2925-10_2925-9delinsAT
NM_001346440.2:c.2925-10_2925-9delinsAT	NP_001333369.1:n.2925-10_2925-9delinsAT