Canonical Allele Identifier: CA593780535

Gene: ERCC6

Linked Data

• dbSNP Id: rs1564442540
• gnomAD v2: 10-50732540-G-GTT
• gnomAD v4: 10-49524494-G-GTT
• MyVariant Identifiers: chr10:g.50732540_50732541insTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524498_49524499dup , CM000672.2:g.49524498_49524499dup	GRCh38
NC_000010.10:g.50732544_50732545dup , CM000672.1:g.50732544_50732545dup	GRCh37
NC_000010.9:g.50402550_50402551dup	NCBI36
NG_009442.1:g.19606_19607dup , LRG_465:g.19606_19607dup
NG_033155.1:g.4786_4787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.934_935dup MANE Select	ENSP00000348089.5:p.Asn312LysfsTer18
ENST00000447839.7:c.934_935dup MANE Plus Clinical	ENSP00000387966.2:p.Asn312LysfsTer18
ENST00000679596.1:c.*563_*564dup	ENSP00000504862.1:n.*563_*564dup
ENST00000679811.1:n.1017_1018dup
ENST00000680107.1:c.652+3921_652+3922dup	ENSP00000505909.1:n.652+3921_652+3922dup
ENST00000680233.1:n.1027_1028dup
ENST00000681632.1:n.1012_1013dup
ENST00000681659.1:c.934_935dup	ENSP00000505631.1:p.Asn312LysfsTer18
ENST00000355832.9:c.934_935dup	ENSP00000348089.5:p.Asn312LysfsTer18
ENST00000447839.6:c.934_935dup	ENSP00000387966.2:p.Asn312LysfsTer18
ENST00000515869.1:c.934_935dup	ENSP00000423550.1:p.Asn312LysfsTer18
NM_000124.3:c.934_935dup	NP_000115.1:p.Asn312LysfsTer18
NM_001277058.1:c.934_935dup	NP_001263987.1:p.Asn312LysfsTer18
NM_001277059.1:c.934_935dup	NP_001263988.1:p.Asn312LysfsTer18
NM_001346440.1:c.934_935dup	NP_001333369.1:p.Asn312LysfsTer18
NM_000124.4:c.934_935dup MANE Select	NP_000115.1:p.Asn312LysfsTer18
NM_001277058.2:c.934_935dup MANE Plus Clinical	NP_001263987.1:p.Asn312LysfsTer18
NM_001277059.2:c.934_935dup	NP_001263988.1:p.Asn312LysfsTer18
NM_001346440.2:c.934_935dup	NP_001333369.1:p.Asn312LysfsTer18