Canonical Allele Identifier: CA1908753002

Gene: ERCC6

Linked Data

• dbSNP Id: rs1836899148

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514814_49514817del , CM000672.2:g.49514814_49514817del	GRCh38
NC_000010.10:g.50722860_50722863del , CM000672.1:g.50722860_50722863del	GRCh37
NC_000010.9:g.50392866_50392869del	NCBI36
NG_009442.1:g.29288_29291del , LRG_465:g.29288_29291del
NG_033155.1:g.14468_14471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8802_1398-8799del MANE Select	ENSP00000348089.5:n.1398-8802_1398-8799de...
ENST00000679811.1:n.1481-8802_1481-8799del
ENST00000680107.1:c.*2285_*2288del	ENSP00000505909.1:n.*2285_*2288del
ENST00000681632.1:n.1476-8802_1476-8799del
ENST00000681659.1:c.1398-8802_1398-8799del	ENSP00000505631.1:n.1398-8802_1398-8799de...
ENST00000355832.9:c.1398-8802_1398-8799del	ENSP00000348089.5:n.1398-8802_1398-8799de...
NM_000124.3:c.1398-8802_1398-8799del	NP_000115.1:n.1398-8802_1398-8799del
NM_001346440.1:c.1398-8802_1398-8799del	NP_001333369.1:n.1398-8802_1398-8799del
NM_000124.4:c.1398-8802_1398-8799del MANE Select	NP_000115.1:n.1398-8802_1398-8799del
NM_001346440.2:c.1398-8802_1398-8799del	NP_001333369.1:n.1398-8802_1398-8799del