Canonical Allele Identifier: CA1908749618

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850766870

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470896_49470897insT , CM000672.2:g.49470896_49470897insT	GRCh38
NC_000010.10:g.50678942_50678943insT , CM000672.1:g.50678942_50678943insT	GRCh37
NC_000010.9:g.50348948_50348949insT	NCBI36
NG_009442.1:g.73205_73206insA , LRG_465:g.73205_73206insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3071-8_3071-7insA MANE Select	ENSP00000348089.5:n.3071-8_3071-7insA
ENST00000679552.1:n.142-8_142-7insA
ENST00000679871.1:n.217-8_217-7insA
ENST00000679974.1:n.120-8_120-7insA
ENST00000681632.1:n.4474-8_4474-7insA
ENST00000681659.1:c.2912-8_2912-7insA	ENSP00000505631.1:n.2912-8_2912-7insA
ENST00000355832.9:c.3071-8_3071-7insA	ENSP00000348089.5:n.3071-8_3071-7insA
ENST00000623073.3:c.*1367-8_*1367-7insA	ENSP00000485650.1:n.*1367-8_*1367-7insA
ENST00000623115.3:c.1181-8_1181-7insA	ENSP00000485321.1:n.1181-8_1181-7insA
ENST00000624341.3:c.903-8_903-7insA
NM_000124.3:c.3071-8_3071-7insA	NP_000115.1:n.3071-8_3071-7insA
XR_945953.1:n.243-669_243-668insT
NM_001346440.1:c.3071-8_3071-7insA	NP_001333369.1:n.3071-8_3071-7insA
NM_000124.4:c.3071-8_3071-7insA MANE Select	NP_000115.1:n.3071-8_3071-7insA
NM_001346440.2:c.3071-8_3071-7insA	NP_001333369.1:n.3071-8_3071-7insA