Canonical Allele Identifier: CA1908749404

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470423_49470424delinsAT , CM000672.2:g.49470423_49470424delinsAT	GRCh38
NC_000010.10:g.50678469_50678470delinsAT , CM000672.1:g.50678469_50678470delinsAT	GRCh37
NC_000010.9:g.50348475_50348476delinsAT	NCBI36
NG_009442.1:g.73678_73679delinsAT , LRG_465:g.73678_73679delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3536_3537delinsAT MANE Select	ENSP00000348089.5:p.Tyr1179=
ENST00000679552.1:n.607_608delinsAT
ENST00000679871.1:n.682_683delinsAT
ENST00000679974.1:n.585_586delinsAT
ENST00000681632.1:n.4939_4940delinsAT
ENST00000681659.1:c.3377_3378delinsAT	ENSP00000505631.1:p.Tyr1126=
ENST00000355832.9:c.3536_3537delinsAT	ENSP00000348089.5:p.Tyr1179=
ENST00000623073.3:c.*1832_*1833delinsAT	ENSP00000485650.1:n.*1832_*1833delinsAT
ENST00000623115.3:c.1646_1647delinsAT	ENSP00000485321.1:p.Tyr549=
ENST00000624341.3:c.1368_1369delinsAT
NM_000124.3:c.3536_3537delinsAT	NP_000115.1:p.Tyr1179=
XR_945953.1:n.243-1142_243-1141delinsAT
NM_001346440.1:c.3536_3537delinsAT	NP_001333369.1:p.Tyr1179=
NM_000124.4:c.3536_3537delinsAT MANE Select	NP_000115.1:p.Tyr1179=
NM_001346440.2:c.3536_3537delinsAT	NP_001333369.1:p.Tyr1179=