Canonical Allele Identifier: CA5496365

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 558026
• ClinVar RCV Id: RCV000674239
• dbSNP Id: rs772545860
• ExAC: 10:50732264 C / CTGA
• gnomAD v2: 10-50732264-C-CTGA
• gnomAD v4: 10-49524218-C-CTGA
• MyVariant Identifiers: chr10:g.50732264_50732265insTGA (hg19) ; chr10:g.49524218_49524219insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524218_49524219insTGA , CM000672.2:g.49524218_49524219insTGA	GRCh38
NC_000010.10:g.50732264_50732265insTGA , CM000672.1:g.50732264_50732265insTGA	GRCh37
NC_000010.9:g.50402270_50402271insTGA	NCBI36
NG_009442.1:g.19883_19884insTCA , LRG_465:g.19883_19884insTCA
NG_033155.1:g.5063_5064insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1211_1212insTCA (ERCC6) MANE Select	ENSP00000348089.5:p.Leu404_Lys405insGln
ENST00000447839.7:c.1211_1212insTCA (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Leu404_Lys405insGln
ENST00000679596.1:c.*840_*841insTCA (ERCC6)	ENSP00000504862.1:n.*840_*841insTCA
ENST00000679811.1:n.1294_1295insTCA (ERCC6)
ENST00000680107.1:c.652+4198_652+4199insTCA (ERCC6)	ENSP00000505909.1:n.652+4198_652+4199insTCA
ENST00000680233.1:n.1304_1305insTCA (ERCC6)
ENST00000681632.1:n.1289_1290insTCA (ERCC6)
ENST00000681659.1:c.1211_1212insTCA (ERCC6)	ENSP00000505631.1:p.Leu404_Lys405insGln
ENST00000355832.9:c.1211_1212insTCA (ERCC6)	ENSP00000348089.5:p.Leu404_Lys405insGln
ENST00000374127.3:c.-194_-193insTCA	ENSP00000363242.3:n.-194_-193insTCA
ENST00000447839.6:c.1211_1212insTCA	ENSP00000387966.2:p.Leu404_Lys405insGln
ENST00000515869.1:c.1211_1212insTCA	ENSP00000423550.1:p.Leu404_Lys405insGln
NM_000124.3:c.1211_1212insTCA (ERCC6)	NP_000115.1:p.Leu404_Lys405insGln
NM_001277058.1:c.1211_1212insTCA	NP_001263987.1:p.Leu404_Lys405insGln
NM_001277059.1:c.1211_1212insTCA	NP_001263988.1:p.Leu404_Lys405insGln
NM_170753.3:c.-194_-193insTCA (PGBD3)	NP_736609.2:n.-194_-193insTCA
NM_001346440.1:c.1211_1212insTCA (ERCC6)	NP_001333369.1:p.Leu404_Lys405insGln
NM_000124.4:c.1211_1212insTCA (ERCC6) MANE Select	NP_000115.1:p.Leu404_Lys405insGln
NM_001277058.2:c.1211_1212insTCA (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Leu404_Lys405insGln
NM_001277059.2:c.1211_1212insTCA (ERCC6)	NP_001263988.1:p.Leu404_Lys405insGln
NM_001346440.2:c.1211_1212insTCA (ERCC6)	NP_001333369.1:p.Leu404_Lys405insGln