Canonical Allele Identifier: CA1908749720

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471091_49471093delinsCTA , CM000672.2:g.49471091_49471093delinsCTA	GRCh38
NC_000010.10:g.50679137_50679139delinsCTA , CM000672.1:g.50679137_50679139delinsCTA	GRCh37
NC_000010.9:g.50349143_50349145delinsCTA	NCBI36
NG_009442.1:g.73009_73011delinsTAG , LRG_465:g.73009_73011delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2952_2954delinsTAG MANE Select	ENSP00000348089.5:p.Asn984=
ENST00000679552.1:n.142-204_142-202delinsTAG
ENST00000679871.1:n.98_100delinsTAG
ENST00000679974.1:n.120-204_120-202delinsTAG
ENST00000681632.1:n.4355_4357delinsTAG
ENST00000681659.1:c.2793_2795delinsTAG	ENSP00000505631.1:p.Asn931=
ENST00000355832.9:c.2952_2954delinsTAG	ENSP00000348089.5:p.Asn984=
ENST00000623073.3:c.*1248_*1250delinsTAG	ENSP00000485650.1:n.*1248_*1250delinsTAG
ENST00000623115.3:c.1062_1064delinsTAG	ENSP00000485321.1:p.Asn354=
ENST00000624341.3:c.784_786delinsTAG
NM_000124.3:c.2952_2954delinsTAG	NP_000115.1:p.Asn984=
XR_945953.1:n.243-474_243-472delinsCTA
NM_001346440.1:c.2952_2954delinsTAG	NP_001333369.1:p.Asn984=
NM_000124.4:c.2952_2954delinsTAG MANE Select	NP_000115.1:p.Asn984=
NM_001346440.2:c.2952_2954delinsTAG	NP_001333369.1:p.Asn984=