Canonical Allele Identifier: CA3038778633

Gene: ERCC6 PGBD3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524218_49524219insTGG , CM000672.2:g.49524218_49524219insTGG	GRCh38
NC_000010.10:g.50732264_50732265insTGG , CM000672.1:g.50732264_50732265insTGG	GRCh37
NC_000010.9:g.50402270_50402271insTGG	NCBI36
NG_009442.1:g.19883_19884insCCA , LRG_465:g.19883_19884insCCA
NG_033155.1:g.5063_5064insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1211_1212insCCA (ERCC6) MANE Select	ENSP00000348089.5:p.Leu404_Lys405insGln
ENST00000447839.7:c.1211_1212insCCA (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Leu404_Lys405insGln
ENST00000679596.1:c.*840_*841insCCA (ERCC6)	ENSP00000504862.1:n.*840_*841insCCA
ENST00000679811.1:n.1294_1295insCCA (ERCC6)
ENST00000680107.1:c.652+4198_652+4199insCCA (ERCC6)	ENSP00000505909.1:n.652+4198_652+4199insCCA
ENST00000680233.1:n.1304_1305insCCA (ERCC6)
ENST00000681632.1:n.1289_1290insCCA (ERCC6)
ENST00000681659.1:c.1211_1212insCCA (ERCC6)	ENSP00000505631.1:p.Leu404_Lys405insGln
ENST00000355832.9:c.1211_1212insCCA (ERCC6)	ENSP00000348089.5:p.Leu404_Lys405insGln
ENST00000374127.3:c.-194_-193insCCA	ENSP00000363242.3:n.-194_-193insCCA
ENST00000447839.6:c.1211_1212insCCA	ENSP00000387966.2:p.Leu404_Lys405insGln
ENST00000515869.1:c.1211_1212insCCA	ENSP00000423550.1:p.Leu404_Lys405insGln
NM_000124.3:c.1211_1212insCCA (ERCC6)	NP_000115.1:p.Leu404_Lys405insGln
NM_001277058.1:c.1211_1212insCCA	NP_001263987.1:p.Leu404_Lys405insGln
NM_001277059.1:c.1211_1212insCCA	NP_001263988.1:p.Leu404_Lys405insGln
NM_170753.3:c.-194_-193insCCA (PGBD3)	NP_736609.2:n.-194_-193insCCA
NM_001346440.1:c.1211_1212insCCA (ERCC6)	NP_001333369.1:p.Leu404_Lys405insGln
NM_000124.4:c.1211_1212insCCA (ERCC6) MANE Select	NP_000115.1:p.Leu404_Lys405insGln
NM_001277058.2:c.1211_1212insCCA (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Leu404_Lys405insGln
NM_001277059.2:c.1211_1212insCCA (ERCC6)	NP_001263988.1:p.Leu404_Lys405insGln
NM_001346440.2:c.1211_1212insCCA (ERCC6)	NP_001333369.1:p.Leu404_Lys405insGln