Canonical Allele Identifier: CA1908745469

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461409_49461421delinsGACACTGCTCCCA , CM000672.2:g.49461409_49461421delinsGACACTGCTCCCA	GRCh38
NC_000010.10:g.50669455_50669467delinsGACACTGCTCCCA , CM000672.1:g.50669455_50669467delinsGACACTGCTCCCA	GRCh37
NC_000010.9:g.50339461_50339473delinsGACACTGCTCCCA	NCBI36
NG_009442.1:g.82681_82693delinsTGGGAGCAGTGTC , LRG_465:g.82681_82693delinsTGGGAGCAGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3914_3926delinsTGGGAGCAGTGTC MANE Select	ENSP00000348089.5:p.Leu1305=
ENST00000679552.1:n.985_997delinsTGGGAGCAGTGTC
ENST00000679871.1:n.1060_1072delinsTGGGAGCAGTGTC
ENST00000679974.1:n.963_975delinsTGGGAGCAGTGTC
ENST00000681632.1:n.5317_5329delinsTGGGAGCAGTGTC
ENST00000681659.1:c.3755_3767delinsTGGGAGCAGTGTC	ENSP00000505631.1:p.Leu1252=
ENST00000355832.9:c.3914_3926delinsTGGGAGCAGTGTC	ENSP00000348089.5:p.Leu1305=
ENST00000465653.1:n.236_248delinsTGGGAGCAGTGTC
ENST00000623073.3:c.*2210_*2222delinsTGGGAGCAGTGTC	ENSP00000485650.1:n.*2210_*2222delinsTGGGAGCAGTGTC
ENST00000623115.3:c.2024_2036delinsTGGGAGCAGTGTC	ENSP00000485321.1:p.Leu675=
ENST00000624341.3:c.1746_1758delinsTGGGAGCAGTGTC
NM_000124.3:c.3914_3926delinsTGGGAGCAGTGTC	NP_000115.1:p.Leu1305=
XR_945953.1:n.243-10156_243-10144delinsGACACTGCTCCCA
NM_001346440.1:c.3914_3926delinsTGGGAGCAGTGTC	NP_001333369.1:p.Leu1305=
NM_000124.4:c.3914_3926delinsTGGGAGCAGTGTC MANE Select	NP_000115.1:p.Leu1305=
NM_001346440.2:c.3914_3926delinsTGGGAGCAGTGTC	NP_001333369.1:p.Leu1305=