Canonical Allele Identifier: CA1908749560

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470775_49470777delinsGAT , CM000672.2:g.49470775_49470777delinsGAT	GRCh38
NC_000010.10:g.50678821_50678823delinsGAT , CM000672.1:g.50678821_50678823delinsGAT	GRCh37
NC_000010.9:g.50348827_50348829delinsGAT	NCBI36
NG_009442.1:g.73325_73327delinsATC , LRG_465:g.73325_73327delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3183_3185delinsATC MANE Select	ENSP00000348089.5:p.Ile1061=
ENST00000679552.1:n.254_256delinsATC
ENST00000679871.1:n.329_331delinsATC
ENST00000679974.1:n.232_234delinsATC
ENST00000681632.1:n.4586_4588delinsATC
ENST00000681659.1:c.3024_3026delinsATC	ENSP00000505631.1:p.Ile1008=
ENST00000355832.9:c.3183_3185delinsATC	ENSP00000348089.5:p.Ile1061=
ENST00000623073.3:c.*1479_*1481delinsATC	ENSP00000485650.1:n.*1479_*1481delinsATC
ENST00000623115.3:c.1293_1295delinsATC	ENSP00000485321.1:p.Ile431=
ENST00000624341.3:c.1015_1017delinsATC
NM_000124.3:c.3183_3185delinsATC	NP_000115.1:p.Ile1061=
XR_945953.1:n.243-790_243-788delinsGAT
NM_001346440.1:c.3183_3185delinsATC	NP_001333369.1:p.Ile1061=
NM_000124.4:c.3183_3185delinsATC MANE Select	NP_000115.1:p.Ile1061=
NM_001346440.2:c.3183_3185delinsATC	NP_001333369.1:p.Ile1061=