Canonical Allele Identifier: CA1908745075

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460427_49460428delinsAT , CM000672.2:g.49460427_49460428delinsAT	GRCh38
NC_000010.10:g.50668473_50668474delinsAT , CM000672.1:g.50668473_50668474delinsAT	GRCh37
NC_000010.9:g.50338479_50338480delinsAT	NCBI36
NG_009442.1:g.83674_83675delinsAT , LRG_465:g.83674_83675delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4007_4008delinsAT MANE Select	ENSP00000348089.5:p.Asn1336=
ENST00000679552.1:n.1078_1079delinsAT
ENST00000679871.1:n.1153_1154delinsAT
ENST00000679974.1:n.1056_1057delinsAT
ENST00000681632.1:n.5410_5411delinsAT
ENST00000681659.1:c.3848_3849delinsAT	ENSP00000505631.1:p.Asn1283=
ENST00000355832.9:c.4007_4008delinsAT	ENSP00000348089.5:p.Asn1336=
ENST00000465653.1:n.329_330delinsAT
ENST00000623073.3:c.*2303_*2304delinsAT	ENSP00000485650.1:n.*2303_*2304delinsAT
ENST00000623115.3:c.2117_2118delinsAT	ENSP00000485321.1:p.Asn706=
ENST00000624341.3:c.1839_1840delinsAT
NM_000124.3:c.4007_4008delinsAT	NP_000115.1:p.Asn1336=
XR_945953.1:n.243-11138_243-11137delinsAT
NM_001346440.1:c.4007_4008delinsAT	NP_001333369.1:p.Asn1336=
NM_000124.4:c.4007_4008delinsAT MANE Select	NP_000115.1:p.Asn1336=
NM_001346440.2:c.4007_4008delinsAT	NP_001333369.1:p.Asn1336=