Canonical Allele Identifier: CA2787928767

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471116_49471117insAGA , CM000672.2:g.49471116_49471117insAGA	GRCh38
NC_000010.10:g.50679162_50679163insAGA , CM000672.1:g.50679162_50679163insAGA	GRCh37
NC_000010.9:g.50349168_50349169insAGA	NCBI36
NG_009442.1:g.72985_72986insTCT , LRG_465:g.72985_72986insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2928_2929insTCT MANE Select	ENSP00000348089.5:p.Gln976_Ile977insSer
ENST00000679552.1:n.142-228_142-227insTCT
ENST00000679871.1:n.74_75insTCT
ENST00000679974.1:n.120-228_120-227insTCT
ENST00000681632.1:n.4331_4332insTCT
ENST00000681659.1:c.2769_2770insTCT	ENSP00000505631.1:p.Gln923_Ile924insSer
ENST00000355832.9:c.2928_2929insTCT	ENSP00000348089.5:p.Gln976_Ile977insSer
ENST00000623073.3:c.*1224_*1225insTCT	ENSP00000485650.1:n.*1224_*1225insTCT
ENST00000623115.3:c.1038_1039insTCT	ENSP00000485321.1:p.Gln346_Ile347insSer
ENST00000624341.3:c.760_761insTCT
NM_000124.3:c.2928_2929insTCT	NP_000115.1:p.Gln976_Ile977insSer
XR_945953.1:n.243-449_243-448insAGA
NM_001346440.1:c.2928_2929insTCT	NP_001333369.1:p.Gln976_Ile977insSer
NM_000124.4:c.2928_2929insTCT MANE Select	NP_000115.1:p.Gln976_Ile977insSer
NM_001346440.2:c.2928_2929insTCT	NP_001333369.1:p.Gln976_Ile977insSer