Canonical Allele Identifier: CA2558370641
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064465_104064476del , CM000672.2:g.104064465_104064476del GRCh38
NC_000010.10:g.105824223_105824234del , CM000672.1:g.105824223_105824234del GRCh37
NC_000010.9:g.105814213_105814224del NCBI36
NG_007069.1:g.26405_26416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.728_739del ENSP00000358748.3:p.Ser243_Asn247delinsTyr
ENST00000648076.2:c.728_739del MANE Select ENSP00000497653.1:p.Ser243_Asn247delinsTyr
ENST00000649118.1:n.843_854del
ENST00000650263.1:c.680_691del ENSP00000497850.1:p.Ser227_Asn231delinsTyr
ENST00000353479.9:c.728_739del ENSP00000340937.5:p.Ser243_Asn247delinsTyr
ENST00000369733.7:c.728_739del ENSP00000358748.3:p.Ser243_Asn247delinsTyr
ENST00000393211.3:c.728_739del ENSP00000376905.3:p.Ser243_Asn247delinsTyr
ENST00000488320.1:n.73_84del
NM_000494.3:c.728_739del NP_000485.3:p.Ser243_Asn247delinsTyr
NM_000494.4:c.728_739del MANE Select NP_000485.3:p.Ser243_Asn247delinsTyr
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