Canonical Allele Identifier: CA928219788
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1836899074
gnomAD v3: 10-49514807-AT-A
gnomAD v4: 10-49514807-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49514810del , CM000672.2:g.49514810del GRCh38
NC_000010.10:g.50722856del , CM000672.1:g.50722856del GRCh37
NC_000010.9:g.50392862del NCBI36
NG_009442.1:g.29294del , LRG_465:g.29294del
NG_033155.1:g.14474del

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1398-8796del MANE Select ENSP00000348089.5:n.1398-8796del
ENST00000679811.1:n.1481-8796del
ENST00000680107.1:c.*2291del ENSP00000505909.1:n.*2291del
ENST00000681632.1:n.1476-8796del
ENST00000681659.1:c.1398-8796del ENSP00000505631.1:n.1398-8796del
ENST00000355832.9:c.1398-8796del ENSP00000348089.5:n.1398-8796del
NM_000124.3:c.1398-8796del NP_000115.1:n.1398-8796del
NM_001346440.1:c.1398-8796del NP_001333369.1:n.1398-8796del
NM_000124.4:c.1398-8796del MANE Select NP_000115.1:n.1398-8796del
NM_001346440.2:c.1398-8796del NP_001333369.1:n.1398-8796del
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