Canonical Allele Identifier: CA1908749595

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470852_49470865delinsTAGATGGCATTTGG , CM000672.2:g.49470852_49470865delinsTAGATGGCATTTGG	GRCh38
NC_000010.10:g.50678898_50678911delinsTAGATGGCATTTGG , CM000672.1:g.50678898_50678911delinsTAGATGGCATTTGG	GRCh37
NC_000010.9:g.50348904_50348917delinsTAGATGGCATTTGG	NCBI36
NG_009442.1:g.73237_73250delinsCCAAATGCCATCTA , LRG_465:g.73237_73250delinsCCAAATGCCATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3095_3108delinsCCAAATGCCATCTA MANE Select	ENSP00000348089.5:p.Pro1032=
ENST00000679552.1:n.166_179delinsCCAAATGCCATCTA
ENST00000679871.1:n.241_254delinsCCAAATGCCATCTA
ENST00000679974.1:n.144_157delinsCCAAATGCCATCTA
ENST00000681632.1:n.4498_4511delinsCCAAATGCCATCTA
ENST00000681659.1:c.2936_2949delinsCCAAATGCCATCTA	ENSP00000505631.1:p.Pro979=
ENST00000355832.9:c.3095_3108delinsCCAAATGCCATCTA	ENSP00000348089.5:p.Pro1032=
ENST00000623073.3:c.*1391_*1404delinsCCAAATGCCATCTA	ENSP00000485650.1:n.*1391_*1404delinsCCAAATGCCATCTA
ENST00000623115.3:c.1205_1218delinsCCAAATGCCATCTA	ENSP00000485321.1:p.Pro402=
ENST00000624341.3:c.927_940delinsCCAAATGCCATCTA
NM_000124.3:c.3095_3108delinsCCAAATGCCATCTA	NP_000115.1:p.Pro1032=
XR_945953.1:n.243-713_243-700delinsTAGATGGCATTTGG
NM_001346440.1:c.3095_3108delinsCCAAATGCCATCTA	NP_001333369.1:p.Pro1032=
NM_000124.4:c.3095_3108delinsCCAAATGCCATCTA MANE Select	NP_000115.1:p.Pro1032=
NM_001346440.2:c.3095_3108delinsCCAAATGCCATCTA	NP_001333369.1:p.Pro1032=