Canonical Allele Identifier: CA1908745569

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461607_49461609delinsGAC , CM000672.2:g.49461607_49461609delinsGAC	GRCh38
NC_000010.10:g.50669653_50669655delinsGAC , CM000672.1:g.50669653_50669655delinsGAC	GRCh37
NC_000010.9:g.50339659_50339661delinsGAC	NCBI36
NG_009442.1:g.82493_82495delinsGTC , LRG_465:g.82493_82495delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-53_3779-51delinsGTC MANE Select	ENSP00000348089.5:n.3779-53_3779-51delinsGTC
ENST00000679552.1:n.850-53_850-51delinsGTC
ENST00000679871.1:n.925-53_925-51delinsGTC
ENST00000679974.1:n.828-53_828-51delinsGTC
ENST00000681632.1:n.5182-53_5182-51delinsGTC
ENST00000681659.1:c.3620-53_3620-51delinsGTC	ENSP00000505631.1:n.3620-53_3620-51delinsGTC
ENST00000355832.9:c.3779-53_3779-51delinsGTC	ENSP00000348089.5:n.3779-53_3779-51delinsGTC
ENST00000465653.1:n.101-53_101-51delinsGTC
ENST00000623073.3:c.*2075-53_*2075-51delinsGTC	ENSP00000485650.1:n.*2075-53_*2075-51delinsGTC
ENST00000623115.3:c.1889-53_1889-51delinsGTC	ENSP00000485321.1:n.1889-53_1889-51delinsGTC
ENST00000624341.3:c.1611-53_1611-51delinsGTC
NM_000124.3:c.3779-53_3779-51delinsGTC	NP_000115.1:n.3779-53_3779-51delinsGTC
XR_945953.1:n.243-9958_243-9956delinsGAC
NM_001346440.1:c.3779-53_3779-51delinsGTC	NP_001333369.1:n.3779-53_3779-51delinsGTC
NM_000124.4:c.3779-53_3779-51delinsGTC MANE Select	NP_000115.1:n.3779-53_3779-51delinsGTC
NM_001346440.2:c.3779-53_3779-51delinsGTC	NP_001333369.1:n.3779-53_3779-51delinsGTC