Canonical Allele Identifier: CA1908749518

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850761027

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470685_49470694del , CM000672.2:g.49470685_49470694del	GRCh38
NC_000010.10:g.50678731_50678740del , CM000672.1:g.50678731_50678740del	GRCh37
NC_000010.9:g.50348737_50348746del	NCBI36
NG_009442.1:g.73409_73418del , LRG_465:g.73409_73418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3267_3276del MANE Select	ENSP00000348089.5:p.Asp1089GlufsTer6
ENST00000679552.1:n.338_347del
ENST00000679871.1:n.413_422del
ENST00000679974.1:n.316_325del
ENST00000681632.1:n.4670_4679del
ENST00000681659.1:c.3108_3117del	ENSP00000505631.1:p.Asp1036GlufsTer6
ENST00000355832.9:c.3267_3276del	ENSP00000348089.5:p.Asp1089GlufsTer6
ENST00000623073.3:c.*1563_*1572del	ENSP00000485650.1:n.*1563_*1572del
ENST00000623115.3:c.1377_1386del	ENSP00000485321.1:p.Asp459GlufsTer6
ENST00000624341.3:c.1099_1108del
NM_000124.3:c.3267_3276del	NP_000115.1:p.Asp1089GlufsTer6
XR_945953.1:n.243-880_243-871del
NM_001346440.1:c.3267_3276del	NP_001333369.1:p.Asp1089GlufsTer6
NM_000124.4:c.3267_3276del MANE Select	NP_000115.1:p.Asp1089GlufsTer6
NM_001346440.2:c.3267_3276del	NP_001333369.1:p.Asp1089GlufsTer6