Canonical Allele Identifier: CA1908749517

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470683_49470693delinsCTTTCAAAGGA , CM000672.2:g.49470683_49470693delinsCTTTCAAAGGA	GRCh38
NC_000010.10:g.50678729_50678739delinsCTTTCAAAGGA , CM000672.1:g.50678729_50678739delinsCTTTCAAAGGA	GRCh37
NC_000010.9:g.50348735_50348745delinsCTTTCAAAGGA	NCBI36
NG_009442.1:g.73409_73419delinsTCCTTTGAAAG , LRG_465:g.73409_73419delinsTCCTTTGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3267_3277delinsTCCTTTGAAAG MANE Select	ENSP00000348089.5:p.Asp1089=
ENST00000679552.1:n.338_348delinsTCCTTTGAAAG
ENST00000679871.1:n.413_423delinsTCCTTTGAAAG
ENST00000679974.1:n.316_326delinsTCCTTTGAAAG
ENST00000681632.1:n.4670_4680delinsTCCTTTGAAAG
ENST00000681659.1:c.3108_3118delinsTCCTTTGAAAG	ENSP00000505631.1:p.Asp1036=
ENST00000355832.9:c.3267_3277delinsTCCTTTGAAAG	ENSP00000348089.5:p.Asp1089=
ENST00000623073.3:c.*1563_*1573delinsTCCTTTGAAAG	ENSP00000485650.1:n.*1563_*1573delinsTCCTTTGAAAG
ENST00000623115.3:c.1377_1387delinsTCCTTTGAAAG	ENSP00000485321.1:p.Asp459=
ENST00000624341.3:c.1099_1109delinsTCCTTTGAAAG
NM_000124.3:c.3267_3277delinsTCCTTTGAAAG	NP_000115.1:p.Asp1089=
XR_945953.1:n.243-882_243-872delinsCTTTCAAAGGA
NM_001346440.1:c.3267_3277delinsTCCTTTGAAAG	NP_001333369.1:p.Asp1089=
NM_000124.4:c.3267_3277delinsTCCTTTGAAAG MANE Select	NP_000115.1:p.Asp1089=
NM_001346440.2:c.3267_3277delinsTCCTTTGAAAG	NP_001333369.1:p.Asp1089=