Canonical Allele Identifier: CA2789320504
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034213_104034239del , CM000672.2:g.104034213_104034239del GRCh38
NC_000010.10:g.105793971_105793997del , CM000672.1:g.105793971_105793997del GRCh37
NC_000010.9:g.105783961_105783987del NCBI36
NG_007069.1:g.56647_56673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3621_3647del ENSP00000358748.3:p.Arg1208_Ser1216del
ENST00000648076.2:c.3867_3893del MANE Select ENSP00000497653.1:p.Arg1290_Ser1298del
ENST00000353479.9:c.3867_3893del ENSP00000340937.5:p.Arg1290_Ser1298del
ENST00000369733.7:c.3621_3647del ENSP00000358748.3:p.Arg1208_Ser1216del
NM_000494.3:c.3867_3893del NP_000485.3:p.Arg1290_Ser1298del
NM_000494.4:c.3867_3893del MANE Select NP_000485.3:p.Arg1290_Ser1298del
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Search 100 bp 3'