Canonical Allele Identifier: CA2609136107
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461569_49461571del , CM000672.2:g.49461569_49461571del GRCh38
NC_000010.10:g.50669615_50669617del , CM000672.1:g.50669615_50669617del GRCh37
NC_000010.9:g.50339621_50339623del NCBI36
NG_009442.1:g.82533_82535del , LRG_465:g.82533_82535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3779-13_3779-11del MANE Select ENSP00000348089.5:n.3779-13_3779-11del
ENST00000679552.1:n.850-13_850-11del
ENST00000679871.1:n.925-13_925-11del
ENST00000679974.1:n.828-13_828-11del
ENST00000681632.1:n.5182-13_5182-11del
ENST00000681659.1:c.3620-13_3620-11del ENSP00000505631.1:n.3620-13_3620-11del
ENST00000355832.9:c.3779-13_3779-11del ENSP00000348089.5:n.3779-13_3779-11del
ENST00000465653.1:n.101-13_101-11del
ENST00000623073.3:c.*2075-13_*2075-11del ENSP00000485650.1:n.*2075-13_*2075-11del
ENST00000623115.3:c.1889-13_1889-11del ENSP00000485321.1:n.1889-13_1889-11del
ENST00000624341.3:c.1611-13_1611-11del
NM_000124.3:c.3779-13_3779-11del NP_000115.1:n.3779-13_3779-11del
XR_945953.1:n.243-9996_243-9994del
NM_001346440.1:c.3779-13_3779-11del NP_001333369.1:n.3779-13_3779-11del
NM_000124.4:c.3779-13_3779-11del MANE Select NP_000115.1:n.3779-13_3779-11del
NM_001346440.2:c.3779-13_3779-11del NP_001333369.1:n.3779-13_3779-11del