Canonical Allele Identifier: CA1908750320

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472477_49472481delinsCAGAG , CM000672.2:g.49472477_49472481delinsCAGAG	GRCh38
NC_000010.10:g.50680523_50680527delinsCAGAG , CM000672.1:g.50680523_50680527delinsCAGAG	GRCh37
NC_000010.9:g.50350529_50350533delinsCAGAG	NCBI36
NG_009442.1:g.71621_71625delinsCTCTG , LRG_465:g.71621_71625delinsCTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-11_2830-7delinsCTCTG MANE Select	ENSP00000348089.5:n.2830-11_2830-7delinsC...
ENST00000681632.1:n.4222_4226delinsCTCTG
ENST00000681659.1:c.2671-11_2671-7delinsCTCTG	ENSP00000505631.1:n.2671-11_2671-7delinsC...
ENST00000355832.9:c.2830-11_2830-7delinsCTCTG	ENSP00000348089.5:n.2830-11_2830-7delinsC...
ENST00000623073.3:c.*1126-11_*1126-7delinsCTCTG	ENSP00000485650.1:n.*1126-11_*1126-7delin...
ENST00000623115.3:c.940-11_940-7delinsCTCTG	ENSP00000485321.1:n.940-11_940-7delinsCTC...
ENST00000624341.3:c.662-11_662-7delinsCTCTG
NM_000124.3:c.2830-11_2830-7delinsCTCTG	NP_000115.1:n.2830-11_2830-7delinsCTCTG
XR_945953.1:n.690-226_690-222delinsCAGAG
NM_001346440.1:c.2830-11_2830-7delinsCTCTG	NP_001333369.1:n.2830-11_2830-7delinsCTCT...
NM_000124.4:c.2830-11_2830-7delinsCTCTG MANE Select	NP_000115.1:n.2830-11_2830-7delinsCTCTG
NM_001346440.2:c.2830-11_2830-7delinsCTCTG	NP_001333369.1:n.2830-11_2830-7delinsCTCT...