Canonical Allele Identifier: CA928212202
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1851213499
gnomAD v3: 10-49493559-CT-C
gnomAD v4: 10-49493559-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493563del , CM000672.2:g.49493563del GRCh38
NC_000010.10:g.50701609del , CM000672.1:g.50701609del GRCh37
NC_000010.9:g.50371615del NCBI36
NG_009442.1:g.50542del , LRG_465:g.50542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1686-308del MANE Select ENSP00000348089.5:n.1686-308del
ENST00000681632.1:n.1764-308del
ENST00000681659.1:c.1527-308del ENSP00000505631.1:n.1527-308del
ENST00000355832.9:c.1686-308del ENSP00000348089.5:n.1686-308del
ENST00000475116.1:n.275+6978del
ENST00000623073.3:c.87-308del ENSP00000485650.1:n.87-308del
ENST00000623115.3:c.-70+6978del ENSP00000485321.1:n.-70+6978del
ENST00000623318.1:c.87-308del ENSP00000485423.1:n.87-308del
NM_000124.3:c.1686-308del NP_000115.1:n.1686-308del
NM_001346440.1:c.1686-308del NP_001333369.1:n.1686-308del
NM_000124.4:c.1686-308del MANE Select NP_000115.1:n.1686-308del
NM_001346440.2:c.1686-308del NP_001333369.1:n.1686-308del
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