Canonical Allele Identifier: CA1908745514

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461484_49461485delinsGC , CM000672.2:g.49461484_49461485delinsGC	GRCh38
NC_000010.10:g.50669530_50669531delinsGC , CM000672.1:g.50669530_50669531delinsGC	GRCh37
NC_000010.9:g.50339536_50339537delinsGC	NCBI36
NG_009442.1:g.82617_82618delinsGC , LRG_465:g.82617_82618delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3850_3851delinsGC MANE Select	ENSP00000348089.5:p.Ala1284=
ENST00000679552.1:n.921_922delinsGC
ENST00000679871.1:n.996_997delinsGC
ENST00000679974.1:n.899_900delinsGC
ENST00000681632.1:n.5253_5254delinsGC
ENST00000681659.1:c.3691_3692delinsGC	ENSP00000505631.1:p.Ala1231=
ENST00000355832.9:c.3850_3851delinsGC	ENSP00000348089.5:p.Ala1284=
ENST00000465653.1:n.172_173delinsGC
ENST00000623073.3:c.*2146_*2147delinsGC	ENSP00000485650.1:n.*2146_*2147delinsGC
ENST00000623115.3:c.1960_1961delinsGC	ENSP00000485321.1:p.Ala654=
ENST00000624341.3:c.1682_1683delinsGC
NM_000124.3:c.3850_3851delinsGC	NP_000115.1:p.Ala1284=
XR_945953.1:n.243-10081_243-10080delinsGC
NM_001346440.1:c.3850_3851delinsGC	NP_001333369.1:p.Ala1284=
NM_000124.4:c.3850_3851delinsGC MANE Select	NP_000115.1:p.Ala1284=
NM_001346440.2:c.3850_3851delinsGC	NP_001333369.1:p.Ala1284=