Canonical Allele Identifier: CA2789321295
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038231_104038248del , CM000672.2:g.104038231_104038248del GRCh38
NC_000010.10:g.105797989_105798006del , CM000672.1:g.105797989_105798006del GRCh37
NC_000010.9:g.105787979_105787996del NCBI36
NG_007069.1:g.52640_52657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2935+165_2935+182del ENSP00000358748.3:n.2935+165_2935+182del
ENST00000648076.2:c.3070+165_3070+182del MANE Select ENSP00000497653.1:n.3070+165_3070+182del
ENST00000353479.9:c.3070+165_3070+182del ENSP00000340937.5:n.3070+165_3070+182del
ENST00000369733.7:c.2935+165_2935+182del ENSP00000358748.3:n.2935+165_2935+182del
NM_000494.3:c.3070+165_3070+182del NP_000485.3:n.3070+165_3070+182del
NM_000494.4:c.3070+165_3070+182del MANE Select NP_000485.3:n.3070+165_3070+182del
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