Canonical Allele Identifier: CA1908749686

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471029_49471030delinsTA , CM000672.2:g.49471029_49471030delinsTA	GRCh38
NC_000010.10:g.50679075_50679076delinsTA , CM000672.1:g.50679075_50679076delinsTA	GRCh37
NC_000010.9:g.50349081_50349082delinsTA	NCBI36
NG_009442.1:g.73072_73073delinsTA , LRG_465:g.73072_73073delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3015_3016delinsTA MANE Select	ENSP00000348089.5:p.Phe1005=
ENST00000679552.1:n.142-141_142-140delinsTA
ENST00000679871.1:n.161_162delinsTA
ENST00000679974.1:n.120-141_120-140delinsTA
ENST00000681632.1:n.4418_4419delinsTA
ENST00000681659.1:c.2856_2857delinsTA	ENSP00000505631.1:p.Phe952=
ENST00000355832.9:c.3015_3016delinsTA	ENSP00000348089.5:p.Phe1005=
ENST00000623073.3:c.*1311_*1312delinsTA	ENSP00000485650.1:n.*1311_*1312delinsTA
ENST00000623115.3:c.1125_1126delinsTA	ENSP00000485321.1:p.Phe375=
ENST00000624341.3:c.847_848delinsTA
NM_000124.3:c.3015_3016delinsTA	NP_000115.1:p.Phe1005=
XR_945953.1:n.243-536_243-535delinsTA
NM_001346440.1:c.3015_3016delinsTA	NP_001333369.1:p.Phe1005=
NM_000124.4:c.3015_3016delinsTA MANE Select	NP_000115.1:p.Phe1005=
NM_001346440.2:c.3015_3016delinsTA	NP_001333369.1:p.Phe1005=